Canonical Allele Identifier: CA2201615462

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362897A= , CM000678.2:g.1362897A=	GRCh38
NC_000016.9:g.1412898A= , CM000678.1:g.1412898A=	GRCh37
NC_000016.8:g.1352899A=	NCBI36
NG_016985.1:g.15999A=
NG_033129.1:g.56808T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.913A=
ENST00000529110.2:c.898A=	ENSP00000435349.2:p.Arg300=
ENST00000529957.6:n.872A=
ENST00000683366.1:c.*546A=	ENSP00000507283.1:n.*546A=
ENST00000683887.1:c.862A=	ENSP00000506886.1:p.Arg288=
ENST00000684100.1:n.808A=
ENST00000684126.1:n.948A=
ENST00000684688.1:n.1439A=
ENST00000204679.9:c.814A= MANE Select	ENSP00000204679.4:p.Arg272=
ENST00000204679.8:c.814A=	ENSP00000204679.4:p.Arg272=
ENST00000527076.1:n.2037A=
ENST00000527168.5:n.981A=
ENST00000529957.5:n.913A=
NM_032520.4:c.814A=	NP_115909.1:p.Arg272=
XM_017023782.1:c.862A=	XP_016879271.1:p.Arg288=
XM_017023783.1:c.454A=	XP_016879272.1:p.Arg152=
NM_032520.5:c.814A= MANE Select	NP_115909.1:p.Arg272=