Canonical Allele Identifier: CA2598861740

Gene: GAA

Linked Data

• dbSNP Id: rs1446529672
• gnomAD v3: 17-80101544-G-T
• gnomAD v4: 17-80101544-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101544G>T , CM000679.2:g.80101544G>T	GRCh38
NC_000017.10:g.78075343G>T , CM000679.1:g.78075343G>T	GRCh37
NC_000017.9:g.75689938G>T	NCBI36
NG_009822.1:g.4989G>T , LRG_673:g.4989G>T
NG_029761.1:g.69913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-114G>T	ENSP00000460543.2:n.-114G>T
XM_005257194.3:c.-229G>T	XP_005257251.1:n.-229G>T
NM_000152.4:c.-379G>T	NP_000143.2:n.-379G>T
NM_001079803.2:c.-194G>T	NP_001073271.1:n.-194G>T
NM_001079804.2:c.-114G>T	NP_001073272.1:n.-114G>T
NR_134848.1:n.19G>T
XM_005257194.4:c.-229G>T	XP_005257251.1:n.-229G>T