Canonical Allele Identifier: CA2201615346

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362739G= , CM000678.2:g.1362739G=	GRCh38
NC_000016.9:g.1412740G= , CM000678.1:g.1412740G=	GRCh37
NC_000016.8:g.1352741G=	NCBI36
NG_016985.1:g.15841G=
NG_033129.1:g.56966C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.837G=
ENST00000529110.2:c.822G=	ENSP00000435349.2:p.Arg274=
ENST00000529957.6:n.796G=
ENST00000683366.1:c.*470G=	ENSP00000507283.1:n.*470G=
ENST00000683887.1:c.786G=	ENSP00000506886.1:p.Arg262=
ENST00000684100.1:n.732G=
ENST00000684126.1:n.872G=
ENST00000684688.1:n.1363G=
ENST00000204679.9:c.738G= MANE Select	ENSP00000204679.4:p.Arg246=
ENST00000204679.8:c.738G=	ENSP00000204679.4:p.Arg246=
ENST00000527076.1:n.1961G=
ENST00000527168.5:n.905G=
ENST00000529957.5:n.837G=
NM_032520.4:c.738G=	NP_115909.1:p.Arg246=
XM_017023782.1:c.786G=	XP_016879271.1:p.Arg262=
XM_017023783.1:c.378G=	XP_016879272.1:p.Arg126=
NM_032520.5:c.738G= MANE Select	NP_115909.1:p.Arg246=