Canonical Allele Identifier: CA986719337

Gene: GAA

Linked Data

• dbSNP Id: rs2038949980
• gnomAD v3: 17-80101624-A-C
• gnomAD v4: 17-80101624-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101624A>C , CM000679.2:g.80101624A>C	GRCh38
NC_000017.10:g.78075423A>C , CM000679.1:g.78075423A>C	GRCh37
NC_000017.9:g.75690018A>C	NCBI36
NG_009822.1:g.5069A>C , LRG_673:g.5069A>C
NG_029761.1:g.69993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-34A>C	ENSP00000460543.2:n.-34A>C
ENST00000572080.2:c.-114A>C	ENSP00000459972.2:n.-114A>C
ENST00000577106.6:c.-149A>C	ENSP00000458306.2:n.-149A>C
ENST00000302262.8:c.-299A>C MANE Select	ENSP00000305692.3:n.-299A>C
ENST00000390015.7:c.-114A>C	ENSP00000374665.3:n.-114A>C
ENST00000570803.5:c.-34A>C	ENSP00000460543.1:n.-34A>C
ENST00000574376.1:n.28A>C
ENST00000577106.5:c.-149A>C	ENSP00000458306.1:n.-149A>C
NM_000152.3:c.-299A>C , LRG_673t1:c.-299A>C	NP_000143.2:n.-299A>C
NM_001079803.1:c.-114A>C	NP_001073271.1:n.-114A>C
NM_001079804.1:c.-34A>C	NP_001073272.1:n.-34A>C
XM_005257193.1:c.-209A>C	XP_005257250.1:n.-209A>C
XM_005257194.3:c.-149A>C	XP_005257251.1:n.-149A>C
NM_000152.4:c.-299A>C	NP_000143.2:n.-299A>C
NM_001079803.2:c.-114A>C	NP_001073271.1:n.-114A>C
NM_001079804.2:c.-34A>C	NP_001073272.1:n.-34A>C
NR_134848.1:n.99A>C
XM_005257194.4:c.-149A>C	XP_005257251.1:n.-149A>C
NM_000152.5:c.-299A>C MANE Select	NP_000143.2:n.-299A>C
NM_001079803.3:c.-114A>C	NP_001073271.1:n.-114A>C
NM_001079804.3:c.-34A>C	NP_001073272.1:n.-34A>C
NR_134848.2:n.44A>C