Canonical Allele Identifier: CA2201614878

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362216C= , CM000678.2:g.1362216C=	GRCh38
NC_000016.9:g.1412217C= , CM000678.1:g.1412217C=	GRCh37
NC_000016.8:g.1352218C=	NCBI36
NG_016985.1:g.15318C=
NG_033129.1:g.57489G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.521C=
ENST00000529110.2:c.506C=	ENSP00000435349.2:p.Ala169=
ENST00000529957.6:n.480C=
ENST00000683366.1:c.*154C=	ENSP00000507283.1:n.*154C=
ENST00000683887.1:c.470C=	ENSP00000506886.1:p.Ala157=
ENST00000684100.1:n.416C=
ENST00000684126.1:n.480C=
ENST00000684688.1:n.1047C=
ENST00000204679.9:c.422C= MANE Select	ENSP00000204679.4:p.Ala141=
ENST00000204679.8:c.422C=	ENSP00000204679.4:p.Ala141=
ENST00000527076.1:n.1438C=
ENST00000527168.5:n.458C=
ENST00000529110.1:c.489C=
ENST00000529957.5:n.521C=
NM_032520.4:c.422C=	NP_115909.1:p.Ala141=
XM_017023782.1:c.470C=	XP_016879271.1:p.Ala157=
XM_017023783.1:c.62C=	XP_016879272.1:p.Ala21=
NM_032520.5:c.422C= MANE Select	NP_115909.1:p.Ala141=