Canonical Allele Identifier: CA2277809005

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101606C= , CM000679.2:g.80101606C=	GRCh38
NC_000017.10:g.78075405C= , CM000679.1:g.78075405C=	GRCh37
NC_000017.9:g.75690000C=	NCBI36
NG_009822.1:g.5051C= , LRG_673:g.5051C=
NG_029761.1:g.69975C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-52C=	ENSP00000460543.2:n.-52C=
ENST00000572080.2:c.-132C=	ENSP00000459972.2:n.-132C=
ENST00000577106.6:c.-167C=	ENSP00000458306.2:n.-167C=
ENST00000302262.8:c.-317C= MANE Select	ENSP00000305692.3:n.-317C=
ENST00000390015.7:c.-132C=	ENSP00000374665.3:n.-132C=
ENST00000570803.5:c.-52C=	ENSP00000460543.1:n.-52C=
ENST00000574376.1:n.10C=
ENST00000577106.5:c.-167C=	ENSP00000458306.1:n.-167C=
NM_000152.3:c.-317C= , LRG_673t1:c.-317C=	NP_000143.2:n.-317C=
NM_001079803.1:c.-132C=	NP_001073271.1:n.-132C=
NM_001079804.1:c.-52C=	NP_001073272.1:n.-52C=
XM_005257194.3:c.-167C=	XP_005257251.1:n.-167C=
NM_000152.4:c.-317C=	NP_000143.2:n.-317C=
NM_001079803.2:c.-132C=	NP_001073271.1:n.-132C=
NM_001079804.2:c.-52C=	NP_001073272.1:n.-52C=
NR_134848.1:n.81C=
XM_005257194.4:c.-167C=	XP_005257251.1:n.-167C=
NM_000152.5:c.-317C= MANE Select	NP_000143.2:n.-317C=
NM_001079803.3:c.-132C=	NP_001073271.1:n.-132C=
NM_001079804.3:c.-52C=	NP_001073272.1:n.-52C=
NR_134848.2:n.26C=