Canonical Allele Identifier: CA2201615439
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362864G= , CM000678.2:g.1362864G= GRCh38
NC_000016.9:g.1412865G= , CM000678.1:g.1412865G= GRCh37
NC_000016.8:g.1352866G= NCBI36
NG_016985.1:g.15966G=
NG_033129.1:g.56841C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.880G=
ENST00000529110.2:c.865G= ENSP00000435349.2:p.Gly289=
ENST00000529957.6:n.839G=
ENST00000683366.1:c.*513G= ENSP00000507283.1:n.*513G=
ENST00000683887.1:c.829G= ENSP00000506886.1:p.Gly277=
ENST00000684100.1:n.775G=
ENST00000684126.1:n.915G=
ENST00000684688.1:n.1406G=
ENST00000204679.9:c.781G= MANE Select ENSP00000204679.4:p.Gly261=
ENST00000204679.8:c.781G= ENSP00000204679.4:p.Gly261=
ENST00000527076.1:n.2004G=
ENST00000527168.5:n.948G=
ENST00000529957.5:n.880G=
NM_032520.4:c.781G= NP_115909.1:p.Gly261=
XM_017023782.1:c.829G= XP_016879271.1:p.Gly277=
XM_017023783.1:c.421G= XP_016879272.1:p.Gly141=
NM_032520.5:c.781G= MANE Select NP_115909.1:p.Gly261=