Canonical Allele Identifier: CA2640269596

Gene: GAA

Linked Data

• gnomAD v4: 17-80101632-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101632C>T , CM000679.2:g.80101632C>T	GRCh38
NC_000017.10:g.78075431C>T , CM000679.1:g.78075431C>T	GRCh37
NC_000017.9:g.75690026C>T	NCBI36
NG_009822.1:g.5077C>T , LRG_673:g.5077C>T
NG_029761.1:g.70001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-33+7C>T	ENSP00000460543.2:n.-33+7C>T
ENST00000572080.2:c.-113+7C>T	ENSP00000459972.2:n.-113+7C>T
ENST00000577106.6:c.-148+7C>T	ENSP00000458306.2:n.-148+7C>T
ENST00000302262.8:c.-291C>T MANE Select	ENSP00000305692.3:n.-291C>T
ENST00000390015.7:c.-113+7C>T	ENSP00000374665.3:n.-113+7C>T
ENST00000570803.5:c.-33+7C>T	ENSP00000460543.1:n.-33+7C>T
ENST00000574376.1:n.29+7C>T
ENST00000577106.5:c.-148+7C>T	ENSP00000458306.1:n.-148+7C>T
NM_000152.3:c.-291C>T , LRG_673t1:c.-291C>T	NP_000143.2:n.-291C>T
NM_001079803.1:c.-113+7C>T	NP_001073271.1:n.-113+7C>T
NM_001079804.1:c.-33+7C>T	NP_001073272.1:n.-33+7C>T
XM_005257193.1:c.-201C>T	XP_005257250.1:n.-201C>T
XM_005257194.3:c.-148+7C>T	XP_005257251.1:n.-148+7C>T
NM_000152.4:c.-291C>T	NP_000143.2:n.-291C>T
NM_001079803.2:c.-113+7C>T	NP_001073271.1:n.-113+7C>T
NM_001079804.2:c.-33+7C>T	NP_001073272.1:n.-33+7C>T
NR_134848.1:n.100+7C>T
XM_005257194.4:c.-148+7C>T	XP_005257251.1:n.-148+7C>T
NM_000152.5:c.-291C>T MANE Select	NP_000143.2:n.-291C>T
NM_001079803.3:c.-113+7C>T	NP_001073271.1:n.-113+7C>T
NM_001079804.3:c.-33+7C>T	NP_001073272.1:n.-33+7C>T
NR_134848.2:n.45+7C>T