Canonical Allele Identifier: CA2277809001

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101601G= , CM000679.2:g.80101601G=	GRCh38
NC_000017.10:g.78075400G= , CM000679.1:g.78075400G=	GRCh37
NC_000017.9:g.75689995G=	NCBI36
NG_009822.1:g.5046G= , LRG_673:g.5046G=
NG_029761.1:g.69970G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-57G=	ENSP00000460543.2:n.-57G=
ENST00000572080.2:c.-137G=	ENSP00000459972.2:n.-137G=
ENST00000577106.6:c.-172G=	ENSP00000458306.2:n.-172G=
ENST00000302262.8:c.-322G= MANE Select	ENSP00000305692.3:n.-322G=
ENST00000390015.7:c.-137G=	ENSP00000374665.3:n.-137G=
ENST00000570803.5:c.-57G=	ENSP00000460543.1:n.-57G=
ENST00000574376.1:n.5G=
ENST00000577106.5:c.-172G=	ENSP00000458306.1:n.-172G=
NM_000152.3:c.-322G= , LRG_673t1:c.-322G=	NP_000143.2:n.-322G=
NM_001079803.1:c.-137G=	NP_001073271.1:n.-137G=
NM_001079804.1:c.-57G=	NP_001073272.1:n.-57G=
XM_005257194.3:c.-172G=	XP_005257251.1:n.-172G=
NM_000152.4:c.-322G=	NP_000143.2:n.-322G=
NM_001079803.2:c.-137G=	NP_001073271.1:n.-137G=
NM_001079804.2:c.-57G=	NP_001073272.1:n.-57G=
NR_134848.1:n.76G=
XM_005257194.4:c.-172G=	XP_005257251.1:n.-172G=
NM_000152.5:c.-322G= MANE Select	NP_000143.2:n.-322G=
NM_001079803.3:c.-137G=	NP_001073271.1:n.-137G=
NM_001079804.3:c.-57G=	NP_001073272.1:n.-57G=
NR_134848.2:n.21G=