Canonical Allele Identifier: CA2640269627

Gene: GAA

Linked Data

• gnomAD v4: 17-80101645-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101645C>A , CM000679.2:g.80101645C>A	GRCh38
NC_000017.10:g.78075444C>A , CM000679.1:g.78075444C>A	GRCh37
NC_000017.9:g.75690039C>A	NCBI36
NG_009822.1:g.5090C>A , LRG_673:g.5090C>A
NG_029761.1:g.70014C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-33+20C>A	ENSP00000460543.2:n.-33+20C>A
ENST00000572080.2:c.-113+20C>A	ENSP00000459972.2:n.-113+20C>A
ENST00000577106.6:c.-148+20C>A	ENSP00000458306.2:n.-148+20C>A
ENST00000302262.8:c.-278C>A MANE Select	ENSP00000305692.3:n.-278C>A
ENST00000390015.7:c.-113+20C>A	ENSP00000374665.3:n.-113+20C>A
ENST00000570803.5:c.-33+20C>A	ENSP00000460543.1:n.-33+20C>A
ENST00000574376.1:n.29+20C>A
ENST00000577106.5:c.-148+20C>A	ENSP00000458306.1:n.-148+20C>A
NM_000152.3:c.-278C>A , LRG_673t1:c.-278C>A	NP_000143.2:n.-278C>A
NM_001079803.1:c.-113+20C>A	NP_001073271.1:n.-113+20C>A
NM_001079804.1:c.-33+20C>A	NP_001073272.1:n.-33+20C>A
XM_005257193.1:c.-188C>A	XP_005257250.1:n.-188C>A
XM_005257194.3:c.-148+20C>A	XP_005257251.1:n.-148+20C>A
NM_000152.4:c.-278C>A	NP_000143.2:n.-278C>A
NM_001079803.2:c.-113+20C>A	NP_001073271.1:n.-113+20C>A
NM_001079804.2:c.-33+20C>A	NP_001073272.1:n.-33+20C>A
NR_134848.1:n.100+20C>A
XM_005257193.2:c.-188C>A	XP_005257250.1:n.-188C>A
XM_005257194.4:c.-148+20C>A	XP_005257251.1:n.-148+20C>A
NM_000152.5:c.-278C>A MANE Select	NP_000143.2:n.-278C>A
NM_001079803.3:c.-113+20C>A	NP_001073271.1:n.-113+20C>A
NM_001079804.3:c.-33+20C>A	NP_001073272.1:n.-33+20C>A
NR_134848.2:n.45+20C>A