Canonical Allele Identifier: CA2201615018

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362288C= , CM000678.2:g.1362288C=	GRCh38
NC_000016.9:g.1412289C= , CM000678.1:g.1412289C=	GRCh37
NC_000016.8:g.1352290C=	NCBI36
NG_016985.1:g.15390C=
NG_033129.1:g.57417G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.593C=
ENST00000529110.2:c.578C=	ENSP00000435349.2:p.Thr193=
ENST00000529957.6:n.552C=
ENST00000683366.1:c.*226C=	ENSP00000507283.1:n.*226C=
ENST00000683887.1:c.542C=	ENSP00000506886.1:p.Thr181=
ENST00000684100.1:n.488C=
ENST00000684126.1:n.552C=
ENST00000684688.1:n.1119C=
ENST00000204679.9:c.494C= MANE Select	ENSP00000204679.4:p.Thr165=
ENST00000204679.8:c.494C=	ENSP00000204679.4:p.Thr165=
ENST00000527076.1:n.1510C=
ENST00000527168.5:n.530C=
ENST00000529957.5:n.593C=
NM_032520.4:c.494C=	NP_115909.1:p.Thr165=
XM_017023782.1:c.542C=	XP_016879271.1:p.Thr181=
XM_017023783.1:c.134C=	XP_016879272.1:p.Thr45=
NM_032520.5:c.494C= MANE Select	NP_115909.1:p.Thr165=