Canonical Allele Identifier: CA2201615444

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362872C= , CM000678.2:g.1362872C=	GRCh38
NC_000016.9:g.1412873C= , CM000678.1:g.1412873C=	GRCh37
NC_000016.8:g.1352874C=	NCBI36
NG_016985.1:g.15974C=
NG_033129.1:g.56833G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.888C=
ENST00000529110.2:c.873C=	ENSP00000435349.2:p.Leu291=
ENST00000529957.6:n.847C=
ENST00000683366.1:c.*521C=	ENSP00000507283.1:n.*521C=
ENST00000683887.1:c.837C=	ENSP00000506886.1:p.Leu279=
ENST00000684100.1:n.783C=
ENST00000684126.1:n.923C=
ENST00000684688.1:n.1414C=
ENST00000204679.9:c.789C= MANE Select	ENSP00000204679.4:p.Leu263=
ENST00000204679.8:c.789C=	ENSP00000204679.4:p.Leu263=
ENST00000527076.1:n.2012C=
ENST00000527168.5:n.956C=
ENST00000529957.5:n.888C=
NM_032520.4:c.789C=	NP_115909.1:p.Leu263=
XM_017023782.1:c.837C=	XP_016879271.1:p.Leu279=
XM_017023783.1:c.429C=	XP_016879272.1:p.Leu143=
NM_032520.5:c.789C= MANE Select	NP_115909.1:p.Leu263=