Canonical Allele Identifier: CA2838167844

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101585C>A , CM000679.2:g.80101585C>A	GRCh38
NC_000017.10:g.78075384C>A , CM000679.1:g.78075384C>A	GRCh37
NC_000017.9:g.75689979C>A	NCBI36
NG_009822.1:g.5030C>A , LRG_673:g.5030C>A
NG_029761.1:g.69954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-73C>A	ENSP00000460543.2:n.-73C>A
ENST00000572080.2:c.-153C>A	ENSP00000459972.2:n.-153C>A
ENST00000577106.6:c.-188C>A	ENSP00000458306.2:n.-188C>A
ENST00000302262.8:c.-338C>A MANE Select	ENSP00000305692.3:n.-338C>A
ENST00000570803.5:c.-73C>A	ENSP00000460543.1:n.-73C>A
NM_000152.3:c.-338C>A , LRG_673t1:c.-338C>A	NP_000143.2:n.-338C>A
NM_001079803.1:c.-153C>A	NP_001073271.1:n.-153C>A
NM_001079804.1:c.-73C>A	NP_001073272.1:n.-73C>A
XM_005257194.3:c.-188C>A	XP_005257251.1:n.-188C>A
NM_000152.4:c.-338C>A	NP_000143.2:n.-338C>A
NM_001079803.2:c.-153C>A	NP_001073271.1:n.-153C>A
NM_001079804.2:c.-73C>A	NP_001073272.1:n.-73C>A
NR_134848.1:n.60C>A
XM_005257194.4:c.-188C>A	XP_005257251.1:n.-188C>A
NM_000152.5:c.-338C>A MANE Select	NP_000143.2:n.-338C>A
NM_001079803.3:c.-153C>A	NP_001073271.1:n.-153C>A
NM_001079804.3:c.-73C>A	NP_001073272.1:n.-73C>A
NR_134848.2:n.5C>A