Canonical Allele Identifier: CA2201615007

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362273C= , CM000678.2:g.1362273C=	GRCh38
NC_000016.9:g.1412274C= , CM000678.1:g.1412274C=	GRCh37
NC_000016.8:g.1352275C=	NCBI36
NG_016985.1:g.15375C=
NG_033129.1:g.57432G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.578C=
ENST00000529110.2:c.563C=	ENSP00000435349.2:p.Ala188=
ENST00000529957.6:n.537C=
ENST00000683366.1:c.*211C=	ENSP00000507283.1:n.*211C=
ENST00000683887.1:c.527C=	ENSP00000506886.1:p.Ala176=
ENST00000684100.1:n.473C=
ENST00000684126.1:n.537C=
ENST00000684688.1:n.1104C=
ENST00000204679.9:c.479C= MANE Select	ENSP00000204679.4:p.Ala160=
ENST00000204679.8:c.479C=	ENSP00000204679.4:p.Ala160=
ENST00000527076.1:n.1495C=
ENST00000527168.5:n.515C=
ENST00000529110.1:c.546C=
ENST00000529957.5:n.578C=
NM_032520.4:c.479C=	NP_115909.1:p.Ala160=
XM_017023782.1:c.527C=	XP_016879271.1:p.Ala176=
XM_017023783.1:c.119C=	XP_016879272.1:p.Ala40=
NM_032520.5:c.479C= MANE Select	NP_115909.1:p.Ala160=