Canonical Allele Identifier: CA2201615339

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362727G= , CM000678.2:g.1362727G=	GRCh38
NC_000016.9:g.1412728G= , CM000678.1:g.1412728G=	GRCh37
NC_000016.8:g.1352729G=	NCBI36
NG_016985.1:g.15829G=
NG_033129.1:g.56978C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.825G=
ENST00000529110.2:c.810G=	ENSP00000435349.2:p.Leu270=
ENST00000529957.6:n.784G=
ENST00000683366.1:c.*458G=	ENSP00000507283.1:n.*458G=
ENST00000683887.1:c.774G=	ENSP00000506886.1:p.Leu258=
ENST00000684100.1:n.720G=
ENST00000684126.1:n.860G=
ENST00000684688.1:n.1351G=
ENST00000204679.9:c.726G= MANE Select	ENSP00000204679.4:p.Leu242=
ENST00000204679.8:c.726G=	ENSP00000204679.4:p.Leu242=
ENST00000527076.1:n.1949G=
ENST00000527168.5:n.893G=
ENST00000529957.5:n.825G=
NM_032520.4:c.726G=	NP_115909.1:p.Leu242=
XM_017023782.1:c.774G=	XP_016879271.1:p.Leu258=
XM_017023783.1:c.366G=	XP_016879272.1:p.Leu122=
NM_032520.5:c.726G= MANE Select	NP_115909.1:p.Leu242=