Canonical Allele Identifier: CA2201614967

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362251G= , CM000678.2:g.1362251G=	GRCh38
NC_000016.9:g.1412252G= , CM000678.1:g.1412252G=	GRCh37
NC_000016.8:g.1352253G=	NCBI36
NG_016985.1:g.15353G=
NG_033129.1:g.57454C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.556G=
ENST00000529110.2:c.541G=	ENSP00000435349.2:p.Glu181=
ENST00000529957.6:n.515G=
ENST00000683366.1:c.*189G=	ENSP00000507283.1:n.*189G=
ENST00000683887.1:c.505G=	ENSP00000506886.1:p.Glu169=
ENST00000684100.1:n.451G=
ENST00000684126.1:n.515G=
ENST00000684688.1:n.1082G=
ENST00000204679.9:c.457G= MANE Select	ENSP00000204679.4:p.Glu153=
ENST00000204679.8:c.457G=	ENSP00000204679.4:p.Glu153=
ENST00000527076.1:n.1473G=
ENST00000527168.5:n.493G=
ENST00000529110.1:c.524G=
ENST00000529957.5:n.556G=
NM_032520.4:c.457G=	NP_115909.1:p.Glu153=
XM_017023782.1:c.505G=	XP_016879271.1:p.Glu169=
XM_017023783.1:c.97G=	XP_016879272.1:p.Glu33=
NM_032520.5:c.457G= MANE Select	NP_115909.1:p.Glu153=