Canonical Allele Identifier: CA2277808988

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101587C= , CM000679.2:g.80101587C=	GRCh38
NC_000017.10:g.78075386C= , CM000679.1:g.78075386C=	GRCh37
NC_000017.9:g.75689981C=	NCBI36
NG_009822.1:g.5032C= , LRG_673:g.5032C=
NG_029761.1:g.69956C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-71C=	ENSP00000460543.2:n.-71C=
ENST00000572080.2:c.-151C=	ENSP00000459972.2:n.-151C=
ENST00000577106.6:c.-186C=	ENSP00000458306.2:n.-186C=
ENST00000302262.8:c.-336C= MANE Select	ENSP00000305692.3:n.-336C=
ENST00000570803.5:c.-71C=	ENSP00000460543.1:n.-71C=
ENST00000577106.5:c.-186C=	ENSP00000458306.1:n.-186C=
NM_000152.3:c.-336C= , LRG_673t1:c.-336C=	NP_000143.2:n.-336C=
NM_001079803.1:c.-151C=	NP_001073271.1:n.-151C=
NM_001079804.1:c.-71C=	NP_001073272.1:n.-71C=
XM_005257194.3:c.-186C=	XP_005257251.1:n.-186C=
NM_000152.4:c.-336C=	NP_000143.2:n.-336C=
NM_001079803.2:c.-151C=	NP_001073271.1:n.-151C=
NM_001079804.2:c.-71C=	NP_001073272.1:n.-71C=
NR_134848.1:n.62C=
XM_005257194.4:c.-186C=	XP_005257251.1:n.-186C=
NM_000152.5:c.-336C= MANE Select	NP_000143.2:n.-336C=
NM_001079803.3:c.-151C=	NP_001073271.1:n.-151C=
NM_001079804.3:c.-71C=	NP_001073272.1:n.-71C=
NR_134848.2:n.7C=