Canonical Allele Identifier: CA2640269483

Gene: GAA

Linked Data

• gnomAD v4: 17-80101573-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101573C>A , CM000679.2:g.80101573C>A	GRCh38
NC_000017.10:g.78075372C>A , CM000679.1:g.78075372C>A	GRCh37
NC_000017.9:g.75689967C>A	NCBI36
NG_009822.1:g.5018C>A , LRG_673:g.5018C>A
NG_029761.1:g.69942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-85C>A	ENSP00000460543.2:n.-85C>A
ENST00000570803.5:c.-85C>A	ENSP00000460543.1:n.-85C>A
NM_000152.3:c.-350C>A , LRG_673t1:c.-350C>A	NP_000143.2:n.-350C>A
NM_001079803.1:c.-165C>A	NP_001073271.1:n.-165C>A
NM_001079804.1:c.-85C>A	NP_001073272.1:n.-85C>A
XM_005257194.3:c.-200C>A	XP_005257251.1:n.-200C>A
NM_000152.4:c.-350C>A	NP_000143.2:n.-350C>A
NM_001079803.2:c.-165C>A	NP_001073271.1:n.-165C>A
NM_001079804.2:c.-85C>A	NP_001073272.1:n.-85C>A
NR_134848.1:n.48C>A
XM_005257194.4:c.-200C>A	XP_005257251.1:n.-200C>A