Canonical Allele Identifier: CA2201615446

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362876C= , CM000678.2:g.1362876C=	GRCh38
NC_000016.9:g.1412877C= , CM000678.1:g.1412877C=	GRCh37
NC_000016.8:g.1352878C=	NCBI36
NG_016985.1:g.15978C=
NG_033129.1:g.56829G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.892C=
ENST00000529110.2:c.877C=	ENSP00000435349.2:p.Gln293=
ENST00000529957.6:n.851C=
ENST00000683366.1:c.*525C=	ENSP00000507283.1:n.*525C=
ENST00000683887.1:c.841C=	ENSP00000506886.1:p.Gln281=
ENST00000684100.1:n.787C=
ENST00000684126.1:n.927C=
ENST00000684688.1:n.1418C=
ENST00000204679.9:c.793C= MANE Select	ENSP00000204679.4:p.Gln265=
ENST00000204679.8:c.793C=	ENSP00000204679.4:p.Gln265=
ENST00000527076.1:n.2016C=
ENST00000527168.5:n.960C=
ENST00000529957.5:n.892C=
NM_032520.4:c.793C=	NP_115909.1:p.Gln265=
XM_017023782.1:c.841C=	XP_016879271.1:p.Gln281=
XM_017023783.1:c.433C=	XP_016879272.1:p.Gln145=
NM_032520.5:c.793C= MANE Select	NP_115909.1:p.Gln265=