Canonical Allele Identifier: CA2277817270

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117020G= , CM000679.2:g.80117020G=	GRCh38
NC_000017.10:g.78090819G= , CM000679.1:g.78090819G=	GRCh37
NC_000017.9:g.75705414G=	NCBI36
NG_009822.1:g.20465G= , LRG_673:g.20465G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2242G=	ENSP00000460543.2:p.Glu748=
ENST00000572080.2:c.*380G=	ENSP00000459972.2:n.*380G=
ENST00000577106.6:c.2242G=	ENSP00000458306.2:p.Glu748=
ENST00000302262.8:c.2242G= MANE Select	ENSP00000305692.3:p.Glu748=
ENST00000302262.7:c.2242G=	ENSP00000305692.3:p.Glu748=
ENST00000390015.7:c.2242G=	ENSP00000374665.3:p.Glu748=
ENST00000572080.1:c.661G=
ENST00000573556.1:n.195G=
NM_000152.3:c.2242G= , LRG_673t1:c.2242G=	NP_000143.2:p.Glu748=
NM_001079803.1:c.2242G=	NP_001073271.1:p.Glu748=
NM_001079804.1:c.2242G=	NP_001073272.1:p.Glu748=
XM_005257193.1:c.2242G=	XP_005257250.1:p.Glu748=
XM_005257194.3:c.2242G=	XP_005257251.1:p.Glu748=
NM_000152.4:c.2242G=	NP_000143.2:p.Glu748=
NM_001079803.2:c.2242G=	NP_001073271.1:p.Glu748=
NM_001079804.2:c.2242G=	NP_001073272.1:p.Glu748=
XM_005257193.2:c.2242G=	XP_005257250.1:p.Glu748=
XM_005257194.4:c.2242G=	XP_005257251.1:p.Glu748=
NM_000152.5:c.2242G= MANE Select	NP_000143.2:p.Glu748=
NM_001079803.3:c.2242G=	NP_001073271.1:p.Glu748=
NM_001079804.3:c.2242G=	NP_001073272.1:p.Glu748=