Canonical Allele Identifier: CA2201615006

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362272G= , CM000678.2:g.1362272G=	GRCh38
NC_000016.9:g.1412273G= , CM000678.1:g.1412273G=	GRCh37
NC_000016.8:g.1352274G=	NCBI36
NG_016985.1:g.15374G=
NG_033129.1:g.57433C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.577G=
ENST00000529110.2:c.562G=	ENSP00000435349.2:p.Ala188=
ENST00000529957.6:n.536G=
ENST00000683366.1:c.*210G=	ENSP00000507283.1:n.*210G=
ENST00000683887.1:c.526G=	ENSP00000506886.1:p.Ala176=
ENST00000684100.1:n.472G=
ENST00000684126.1:n.536G=
ENST00000684688.1:n.1103G=
ENST00000204679.9:c.478G= MANE Select	ENSP00000204679.4:p.Ala160=
ENST00000204679.8:c.478G=	ENSP00000204679.4:p.Ala160=
ENST00000527076.1:n.1494G=
ENST00000527168.5:n.514G=
ENST00000529110.1:c.545G=
ENST00000529957.5:n.577G=
NM_032520.4:c.478G=	NP_115909.1:p.Ala160=
XM_017023782.1:c.526G=	XP_016879271.1:p.Ala176=
XM_017023783.1:c.118G=	XP_016879272.1:p.Ala40=
NM_032520.5:c.478G= MANE Select	NP_115909.1:p.Ala160=