Canonical Allele Identifier: CA2640269575

Gene: GAA

Linked Data

• gnomAD v4: 17-80101619-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101619C>A , CM000679.2:g.80101619C>A	GRCh38
NC_000017.10:g.78075418C>A , CM000679.1:g.78075418C>A	GRCh37
NC_000017.9:g.75690013C>A	NCBI36
NG_009822.1:g.5064C>A , LRG_673:g.5064C>A
NG_029761.1:g.69988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-39C>A	ENSP00000460543.2:n.-39C>A
ENST00000572080.2:c.-119C>A	ENSP00000459972.2:n.-119C>A
ENST00000577106.6:c.-154C>A	ENSP00000458306.2:n.-154C>A
ENST00000302262.8:c.-304C>A MANE Select	ENSP00000305692.3:n.-304C>A
ENST00000390015.7:c.-119C>A	ENSP00000374665.3:n.-119C>A
ENST00000570803.5:c.-39C>A	ENSP00000460543.1:n.-39C>A
ENST00000574376.1:n.23C>A
ENST00000577106.5:c.-154C>A	ENSP00000458306.1:n.-154C>A
NM_000152.3:c.-304C>A , LRG_673t1:c.-304C>A	NP_000143.2:n.-304C>A
NM_001079803.1:c.-119C>A	NP_001073271.1:n.-119C>A
NM_001079804.1:c.-39C>A	NP_001073272.1:n.-39C>A
XM_005257194.3:c.-154C>A	XP_005257251.1:n.-154C>A
NM_000152.4:c.-304C>A	NP_000143.2:n.-304C>A
NM_001079803.2:c.-119C>A	NP_001073271.1:n.-119C>A
NM_001079804.2:c.-39C>A	NP_001073272.1:n.-39C>A
NR_134848.1:n.94C>A
XM_005257194.4:c.-154C>A	XP_005257251.1:n.-154C>A
NM_000152.5:c.-304C>A MANE Select	NP_000143.2:n.-304C>A
NM_001079803.3:c.-119C>A	NP_001073271.1:n.-119C>A
NM_001079804.3:c.-39C>A	NP_001073272.1:n.-39C>A
NR_134848.2:n.39C>A