Canonical Allele Identifier: CA2277809022

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101635G= , CM000679.2:g.80101635G=	GRCh38
NC_000017.10:g.78075434G= , CM000679.1:g.78075434G=	GRCh37
NC_000017.9:g.75690029G=	NCBI36
NG_009822.1:g.5080G= , LRG_673:g.5080G=
NG_029761.1:g.70004G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-33+10G=	ENSP00000460543.2:n.-33+10G=
ENST00000572080.2:c.-113+10G=	ENSP00000459972.2:n.-113+10G=
ENST00000577106.6:c.-148+10G=	ENSP00000458306.2:n.-148+10G=
ENST00000302262.8:c.-288G= MANE Select	ENSP00000305692.3:n.-288G=
ENST00000390015.7:c.-113+10G=	ENSP00000374665.3:n.-113+10G=
ENST00000570803.5:c.-33+10G=	ENSP00000460543.1:n.-33+10G=
ENST00000574376.1:n.29+10G=
ENST00000577106.5:c.-148+10G=	ENSP00000458306.1:n.-148+10G=
NM_000152.3:c.-288G= , LRG_673t1:c.-288G=	NP_000143.2:n.-288G=
NM_001079803.1:c.-113+10G=	NP_001073271.1:n.-113+10G=
NM_001079804.1:c.-33+10G=	NP_001073272.1:n.-33+10G=
XM_005257193.1:c.-198G=	XP_005257250.1:n.-198G=
XM_005257194.3:c.-148+10G=	XP_005257251.1:n.-148+10G=
NM_000152.4:c.-288G=	NP_000143.2:n.-288G=
NM_001079803.2:c.-113+10G=	NP_001073271.1:n.-113+10G=
NM_001079804.2:c.-33+10G=	NP_001073272.1:n.-33+10G=
NR_134848.1:n.100+10G=
XM_005257193.2:c.-198G=	XP_005257250.1:n.-198G=
XM_005257194.4:c.-148+10G=	XP_005257251.1:n.-148+10G=
NM_000152.5:c.-288G= MANE Select	NP_000143.2:n.-288G=
NM_001079803.3:c.-113+10G=	NP_001073271.1:n.-113+10G=
NM_001079804.3:c.-33+10G=	NP_001073272.1:n.-33+10G=
NR_134848.2:n.45+10G=