Canonical Allele Identifier: CA2201615463

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362899G= , CM000678.2:g.1362899G=	GRCh38
NC_000016.9:g.1412900G= , CM000678.1:g.1412900G=	GRCh37
NC_000016.8:g.1352901G=	NCBI36
NG_016985.1:g.16001G=
NG_033129.1:g.56806C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.915G=
ENST00000529110.2:c.900G=	ENSP00000435349.2:p.Arg300=
ENST00000529957.6:n.874G=
ENST00000683366.1:c.*548G=	ENSP00000507283.1:n.*548G=
ENST00000683887.1:c.864G=	ENSP00000506886.1:p.Arg288=
ENST00000684100.1:n.810G=
ENST00000684126.1:n.950G=
ENST00000684688.1:n.1441G=
ENST00000204679.9:c.816G= MANE Select	ENSP00000204679.4:p.Arg272=
ENST00000204679.8:c.816G=	ENSP00000204679.4:p.Arg272=
ENST00000527076.1:n.2039G=
ENST00000527168.5:n.983G=
ENST00000529957.5:n.915G=
NM_032520.4:c.816G=	NP_115909.1:p.Arg272=
XM_017023782.1:c.864G=	XP_016879271.1:p.Arg288=
XM_017023783.1:c.456G=	XP_016879272.1:p.Arg152=
NM_032520.5:c.816G= MANE Select	NP_115909.1:p.Arg272=