Canonical Allele Identifier: CA2201615032

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362304C= , CM000678.2:g.1362304C=	GRCh38
NC_000016.9:g.1412305C= , CM000678.1:g.1412305C=	GRCh37
NC_000016.8:g.1352306C=	NCBI36
NG_016985.1:g.15406C=
NG_033129.1:g.57401G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.609C=
ENST00000529110.2:c.594C=	ENSP00000435349.2:p.His198=
ENST00000529957.6:n.568C=
ENST00000683366.1:c.*242C=	ENSP00000507283.1:n.*242C=
ENST00000683887.1:c.558C=	ENSP00000506886.1:p.His186=
ENST00000684100.1:n.504C=
ENST00000684126.1:n.568C=
ENST00000684688.1:n.1135C=
ENST00000204679.9:c.510C= MANE Select	ENSP00000204679.4:p.His170=
ENST00000204679.8:c.510C=	ENSP00000204679.4:p.His170=
ENST00000527076.1:n.1526C=
ENST00000527168.5:n.546C=
ENST00000529957.5:n.609C=
NM_032520.4:c.510C=	NP_115909.1:p.His170=
XM_017023782.1:c.558C=	XP_016879271.1:p.His186=
XM_017023783.1:c.150C=	XP_016879272.1:p.His50=
NM_032520.5:c.510C= MANE Select	NP_115909.1:p.His170=