The GAA gene homepage

General information
Gene symbol GAA
Gene name alpha glucosidase
Chromosome 17
Chromosomal band q25.3
Imprinted Unknown
Genomic reference LRG_673
Transcript reference NM_000152.4, NM_001079803.2, NM_001079804.2, NR_134848.1, XM_005257193.2, XM_005257194.4
Associated with diseases Pompe's Disease
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 6
Unique public DNA variants reported 5
Individuals with public variants 2
Hidden variants 9
Download all this gene's data Download all data
Date created March 16, 2021
Date last updated September 12, 2021
Version GAA:210912

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 4065
Entrez Gene 2548
PubMed articles GAA
OMIM - Gene 606800
OMIM - Diseases Pompe's Disease
HGMD GAA
GeneCards GAA
GeneTests GAA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000399 17 glucosidase alpha, acid, transcript variant 1 NM_000152.4 NP_000143.2 6
00000400 17 glucosidase alpha, acid, transcript variant 2 NM_001079803.2 NP_001073271.1 0
00000401 17 glucosidase alpha, acid, transcript variant 3 NM_001079804.2 NP_001073272.1 0
00000402 17 glucosidase alpha, acid, transcript variant 4 NR_134848.1 - 0
00000403 17 glucosidase alpha, acid, transcript variant X1 XM_005257193.2 XP_005257250.1 0
00000404 17 glucosidase alpha, acid, transcript variant X2 XM_005257194.4 XP_005257251.1 0


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