Canonical Allele Identifier: CA2201615443

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362870C= , CM000678.2:g.1362870C=	GRCh38
NC_000016.9:g.1412871C= , CM000678.1:g.1412871C=	GRCh37
NC_000016.8:g.1352872C=	NCBI36
NG_016985.1:g.15972C=
NG_033129.1:g.56835G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.886C=
ENST00000529110.2:c.871C=	ENSP00000435349.2:p.Leu291=
ENST00000529957.6:n.845C=
ENST00000683366.1:c.*519C=	ENSP00000507283.1:n.*519C=
ENST00000683887.1:c.835C=	ENSP00000506886.1:p.Leu279=
ENST00000684100.1:n.781C=
ENST00000684126.1:n.921C=
ENST00000684688.1:n.1412C=
ENST00000204679.9:c.787C= MANE Select	ENSP00000204679.4:p.Leu263=
ENST00000204679.8:c.787C=	ENSP00000204679.4:p.Leu263=
ENST00000527076.1:n.2010C=
ENST00000527168.5:n.954C=
ENST00000529957.5:n.886C=
NM_032520.4:c.787C=	NP_115909.1:p.Leu263=
XM_017023782.1:c.835C=	XP_016879271.1:p.Leu279=
XM_017023783.1:c.427C=	XP_016879272.1:p.Leu143=
NM_032520.5:c.787C= MANE Select	NP_115909.1:p.Leu263=