Canonical Allele Identifier: CA2201614904

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362233C= , CM000678.2:g.1362233C=	GRCh38
NC_000016.9:g.1412234C= , CM000678.1:g.1412234C=	GRCh37
NC_000016.8:g.1352235C=	NCBI36
NG_016985.1:g.15335C=
NG_033129.1:g.57472G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.538C=
ENST00000529110.2:c.523C=	ENSP00000435349.2:p.Arg175=
ENST00000529957.6:n.497C=
ENST00000683366.1:c.*171C=	ENSP00000507283.1:n.*171C=
ENST00000683887.1:c.487C=	ENSP00000506886.1:p.Arg163=
ENST00000684100.1:n.433C=
ENST00000684126.1:n.497C=
ENST00000684688.1:n.1064C=
ENST00000204679.9:c.439C= MANE Select	ENSP00000204679.4:p.Arg147=
ENST00000204679.8:c.439C=	ENSP00000204679.4:p.Arg147=
ENST00000527076.1:n.1455C=
ENST00000527168.5:n.475C=
ENST00000529110.1:c.506C=
ENST00000529957.5:n.538C=
NM_032520.4:c.439C=	NP_115909.1:p.Arg147=
XM_017023782.1:c.487C=	XP_016879271.1:p.Arg163=
XM_017023783.1:c.79C=	XP_016879272.1:p.Arg27=
NM_032520.5:c.439C= MANE Select	NP_115909.1:p.Arg147=