Canonical Allele Identifier: CA2640269420

Gene: GAA

Linked Data

• gnomAD v4: 17-80101535-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101535C>T , CM000679.2:g.80101535C>T	GRCh38
NC_000017.10:g.78075334C>T , CM000679.1:g.78075334C>T	GRCh37
NC_000017.9:g.75689929C>T	NCBI36
NG_009822.1:g.4980C>T , LRG_673:g.4980C>T
NG_029761.1:g.69904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-123C>T	ENSP00000460543.2:n.-123C>T
XM_005257194.3:c.-238C>T	XP_005257251.1:n.-238C>T
NM_000152.4:c.-388C>T	NP_000143.2:n.-388C>T
NM_001079803.2:c.-203C>T	NP_001073271.1:n.-203C>T
NM_001079804.2:c.-123C>T	NP_001073272.1:n.-123C>T
NR_134848.1:n.10C>T
XM_005257194.4:c.-238C>T	XP_005257251.1:n.-238C>T