Canonical Allele Identifier: CA2201615450
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362882G= , CM000678.2:g.1362882G= GRCh38
NC_000016.9:g.1412883G= , CM000678.1:g.1412883G= GRCh37
NC_000016.8:g.1352884G= NCBI36
NG_016985.1:g.15984G=
NG_033129.1:g.56823C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.898G=
ENST00000529110.2:c.883G= ENSP00000435349.2:p.Gly295=
ENST00000529957.6:n.857G=
ENST00000683366.1:c.*531G= ENSP00000507283.1:n.*531G=
ENST00000683887.1:c.847G= ENSP00000506886.1:p.Gly283=
ENST00000684100.1:n.793G=
ENST00000684126.1:n.933G=
ENST00000684688.1:n.1424G=
ENST00000204679.9:c.799G= MANE Select ENSP00000204679.4:p.Gly267=
ENST00000204679.8:c.799G= ENSP00000204679.4:p.Gly267=
ENST00000527076.1:n.2022G=
ENST00000527168.5:n.966G=
ENST00000529957.5:n.898G=
NM_032520.4:c.799G= NP_115909.1:p.Gly267=
XM_017023782.1:c.847G= XP_016879271.1:p.Gly283=
XM_017023783.1:c.439G= XP_016879272.1:p.Gly147=
NM_032520.5:c.799G= MANE Select NP_115909.1:p.Gly267=