Canonical Allele Identifier: CA2201615079

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362366C= , CM000678.2:g.1362366C=	GRCh38
NC_000016.9:g.1412367C= , CM000678.1:g.1412367C=	GRCh37
NC_000016.8:g.1352368C=	NCBI36
NG_016985.1:g.15468C=
NG_033129.1:g.57339G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+46C=
ENST00000529110.2:c.610+46C=	ENSP00000435349.2:n.610+46C=
ENST00000529957.6:n.584+46C=
ENST00000683366.1:c.*258+46C=	ENSP00000507283.1:n.*258+46C=
ENST00000683887.1:c.574+46C=	ENSP00000506886.1:n.574+46C=
ENST00000684100.1:n.520+46C=
ENST00000684126.1:n.584+46C=
ENST00000684688.1:n.1151+46C=
ENST00000204679.9:c.526+46C= MANE Select	ENSP00000204679.4:n.526+46C=
ENST00000204679.8:c.526+46C=	ENSP00000204679.4:n.526+46C=
ENST00000527076.1:n.1588C=
ENST00000527168.5:n.608C=
ENST00000529957.5:n.625+46C=
NM_032520.4:c.526+46C=	NP_115909.1:n.526+46C=
XM_017023782.1:c.574+46C=	XP_016879271.1:n.574+46C=
XM_017023783.1:c.166+46C=	XP_016879272.1:n.166+46C=
NM_032520.5:c.526+46C= MANE Select	NP_115909.1:n.526+46C=