Canonical Allele Identifier: CA2201615344

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362735G= , CM000678.2:g.1362735G=	GRCh38
NC_000016.9:g.1412736G= , CM000678.1:g.1412736G=	GRCh37
NC_000016.8:g.1352737G=	NCBI36
NG_016985.1:g.15837G=
NG_033129.1:g.56970C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.833G=
ENST00000529110.2:c.818G=	ENSP00000435349.2:p.Cys273=
ENST00000529957.6:n.792G=
ENST00000683366.1:c.*466G=	ENSP00000507283.1:n.*466G=
ENST00000683887.1:c.782G=	ENSP00000506886.1:p.Cys261=
ENST00000684100.1:n.728G=
ENST00000684126.1:n.868G=
ENST00000684688.1:n.1359G=
ENST00000204679.9:c.734G= MANE Select	ENSP00000204679.4:p.Cys245=
ENST00000204679.8:c.734G=	ENSP00000204679.4:p.Cys245=
ENST00000527076.1:n.1957G=
ENST00000527168.5:n.901G=
ENST00000529957.5:n.833G=
NM_032520.4:c.734G=	NP_115909.1:p.Cys245=
XM_017023782.1:c.782G=	XP_016879271.1:p.Cys261=
XM_017023783.1:c.374G=	XP_016879272.1:p.Cys125=
NM_032520.5:c.734G= MANE Select	NP_115909.1:p.Cys245=