Canonical Allele Identifier: CA2201615418

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362831A= , CM000678.2:g.1362831A=	GRCh38
NC_000016.9:g.1412832A= , CM000678.1:g.1412832A=	GRCh37
NC_000016.8:g.1352833A=	NCBI36
NG_016985.1:g.15933A=
NG_033129.1:g.56874T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.847A=
ENST00000529110.2:c.832A=	ENSP00000435349.2:p.Lys278=
ENST00000529957.6:n.806A=
ENST00000683366.1:c.*480A=	ENSP00000507283.1:n.*480A=
ENST00000683887.1:c.796A=	ENSP00000506886.1:p.Lys266=
ENST00000684100.1:n.742A=
ENST00000684126.1:n.882A=
ENST00000684688.1:n.1373A=
ENST00000204679.9:c.748A= MANE Select	ENSP00000204679.4:p.Lys250=
ENST00000204679.8:c.748A=	ENSP00000204679.4:p.Lys250=
ENST00000527076.1:n.1971A=
ENST00000527168.5:n.915A=
ENST00000529957.5:n.847A=
NM_032520.4:c.748A=	NP_115909.1:p.Lys250=
XM_017023782.1:c.796A=	XP_016879271.1:p.Lys266=
XM_017023783.1:c.388A=	XP_016879272.1:p.Lys130=
NM_032520.5:c.748A= MANE Select	NP_115909.1:p.Lys250=