Canonical Allele Identifier: CA2201614200

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361927C= , CM000678.2:g.1361927C=	GRCh38
NC_000016.9:g.1411928C= , CM000678.1:g.1411928C=	GRCh37
NC_000016.8:g.1351929C=	NCBI36
NG_016985.1:g.15029C=
NG_033129.1:g.57778G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.388C=
ENST00000529110.2:c.373C=	ENSP00000435349.2:p.Arg125=
ENST00000529957.6:n.347C=
ENST00000683366.1:c.*21C=	ENSP00000507283.1:n.*21C=
ENST00000683887.1:c.337C=	ENSP00000506886.1:p.Arg113=
ENST00000684100.1:n.283C=
ENST00000684126.1:n.347C=
ENST00000684688.1:n.914C=
ENST00000204679.9:c.289C= MANE Select	ENSP00000204679.4:p.Arg97=
ENST00000204679.8:c.289C=	ENSP00000204679.4:p.Arg97=
ENST00000526820.5:c.*191C=	ENSP00000434413.1:n.*191C=
ENST00000527076.1:n.1305C=
ENST00000527168.5:n.325C=
ENST00000529110.1:c.356C=
ENST00000529957.5:n.388C=
NM_032520.4:c.289C=	NP_115909.1:p.Arg97=
XM_017023782.1:c.337C=	XP_016879271.1:p.Arg113=
XM_017023783.1:c.-72C=	XP_016879272.1:n.-72C=
NM_032520.5:c.289C= MANE Select	NP_115909.1:p.Arg97=