Canonical Allele Identifier: CA986719216

Gene: GAA

Linked Data

• dbSNP Id: rs1003931341
• gnomAD v3: 17-80101526-G-A
• gnomAD v4: 17-80101526-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101526G>A , CM000679.2:g.80101526G>A	GRCh38
NC_000017.10:g.78075325G>A , CM000679.1:g.78075325G>A	GRCh37
NC_000017.9:g.75689920G>A	NCBI36
NG_009822.1:g.4971G>A , LRG_673:g.4971G>A
NG_029761.1:g.69895G>A

Transcript Alleles

HGVS	Amino-acid change
NM_000152.4:c.-397G>A	NP_000143.2:n.-397G>A
NM_001079803.2:c.-212G>A	NP_001073271.1:n.-212G>A
NM_001079804.2:c.-132G>A	NP_001073272.1:n.-132G>A
NR_134848.1:n.1G>A