Canonical Allele Identifier: CA2201615432
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362851C= , CM000678.2:g.1362851C= GRCh38
NC_000016.9:g.1412852C= , CM000678.1:g.1412852C= GRCh37
NC_000016.8:g.1352853C= NCBI36
NG_016985.1:g.15953C=
NG_033129.1:g.56854G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.867C=
ENST00000529110.2:c.852C= ENSP00000435349.2:p.Ile284=
ENST00000529957.6:n.826C=
ENST00000683366.1:c.*500C= ENSP00000507283.1:n.*500C=
ENST00000683887.1:c.816C= ENSP00000506886.1:p.Ile272=
ENST00000684100.1:n.762C=
ENST00000684126.1:n.902C=
ENST00000684688.1:n.1393C=
ENST00000204679.9:c.768C= MANE Select ENSP00000204679.4:p.Ile256=
ENST00000204679.8:c.768C= ENSP00000204679.4:p.Ile256=
ENST00000527076.1:n.1991C=
ENST00000527168.5:n.935C=
ENST00000529957.5:n.867C=
NM_032520.4:c.768C= NP_115909.1:p.Ile256=
XM_017023782.1:c.816C= XP_016879271.1:p.Ile272=
XM_017023783.1:c.408C= XP_016879272.1:p.Ile136=
NM_032520.5:c.768C= MANE Select NP_115909.1:p.Ile256=