Canonical Allele Identifier: CA2201615274

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362631G= , CM000678.2:g.1362631G=	GRCh38
NC_000016.9:g.1412632G= , CM000678.1:g.1412632G=	GRCh37
NC_000016.8:g.1352633G=	NCBI36
NG_016985.1:g.15733G=
NG_033129.1:g.57074C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.729G=
ENST00000529110.2:c.714G=	ENSP00000435349.2:p.Arg238=
ENST00000529957.6:n.688G=
ENST00000683366.1:c.*362G=	ENSP00000507283.1:n.*362G=
ENST00000683887.1:c.678G=	ENSP00000506886.1:p.Arg226=
ENST00000684100.1:n.624G=
ENST00000684126.1:n.764G=
ENST00000684688.1:n.1255G=
ENST00000204679.9:c.630G= MANE Select	ENSP00000204679.4:p.Arg210=
ENST00000204679.8:c.630G=	ENSP00000204679.4:p.Arg210=
ENST00000527076.1:n.1853G=
ENST00000527168.5:n.797G=
ENST00000529957.5:n.729G=
NM_032520.4:c.630G=	NP_115909.1:p.Arg210=
XM_017023782.1:c.678G=	XP_016879271.1:p.Arg226=
XM_017023783.1:c.270G=	XP_016879272.1:p.Arg90=
NM_032520.5:c.630G= MANE Select	NP_115909.1:p.Arg210=