Canonical Allele Identifier: CA2201615315

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362689C= , CM000678.2:g.1362689C=	GRCh38
NC_000016.9:g.1412690C= , CM000678.1:g.1412690C=	GRCh37
NC_000016.8:g.1352691C=	NCBI36
NG_016985.1:g.15791C=
NG_033129.1:g.57016G=

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.688C= MANE Select	NP_115909.1:p.Leu230=
ENST00000204679.9:c.688C= MANE Select	ENSP00000204679.4:p.Leu230=
NM_032520.4:c.688C=	NP_115909.1:p.Leu230=
ENST00000204679.8:c.688C=	ENSP00000204679.4:p.Leu230=
ENST00000527076.1:n.1911C=
ENST00000527168.5:n.855C=
ENST00000527168.6:n.787C=
ENST00000529110.2:c.772C=	ENSP00000435349.2:p.Leu258=
ENST00000529957.5:n.787C=
ENST00000529957.6:n.746C=
ENST00000683366.1:c.*420C=	ENSP00000507283.1:n.*420C=
ENST00000683887.1:c.736C=	ENSP00000506886.1:p.Leu246=
ENST00000684100.1:n.682C=
ENST00000684126.1:n.822C=
ENST00000684688.1:n.1313C=
XM_017023782.1:c.736C=	XP_016879271.1:p.Leu246=
XM_017023783.1:c.328C=	XP_016879272.1:p.Leu110=