Canonical Allele Identifier: CA2201615434

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362852A= , CM000678.2:g.1362852A=	GRCh38
NC_000016.9:g.1412853A= , CM000678.1:g.1412853A=	GRCh37
NC_000016.8:g.1352854A=	NCBI36
NG_016985.1:g.15954A=
NG_033129.1:g.56853T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.868A=
ENST00000529110.2:c.853A=	ENSP00000435349.2:p.Lys285=
ENST00000529957.6:n.827A=
ENST00000683366.1:c.*501A=	ENSP00000507283.1:n.*501A=
ENST00000683887.1:c.817A=	ENSP00000506886.1:p.Lys273=
ENST00000684100.1:n.763A=
ENST00000684126.1:n.903A=
ENST00000684688.1:n.1394A=
ENST00000204679.9:c.769A= MANE Select	ENSP00000204679.4:p.Lys257=
ENST00000204679.8:c.769A=	ENSP00000204679.4:p.Lys257=
ENST00000527076.1:n.1992A=
ENST00000527168.5:n.936A=
ENST00000529957.5:n.868A=
NM_032520.4:c.769A=	NP_115909.1:p.Lys257=
XM_017023782.1:c.817A=	XP_016879271.1:p.Lys273=
XM_017023783.1:c.409A=	XP_016879272.1:p.Lys137=
NM_032520.5:c.769A= MANE Select	NP_115909.1:p.Lys257=