Canonical Allele Identifier: CA2201615461
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362896G= , CM000678.2:g.1362896G= GRCh38
NC_000016.9:g.1412897G= , CM000678.1:g.1412897G= GRCh37
NC_000016.8:g.1352898G= NCBI36
NG_016985.1:g.15998G=
NG_033129.1:g.56809C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.912G=
ENST00000529110.2:c.897G= ENSP00000435349.2:p.Thr299=
ENST00000529957.6:n.871G=
ENST00000683366.1:c.*545G= ENSP00000507283.1:n.*545G=
ENST00000683887.1:c.861G= ENSP00000506886.1:p.Thr287=
ENST00000684100.1:n.807G=
ENST00000684126.1:n.947G=
ENST00000684688.1:n.1438G=
ENST00000204679.9:c.813G= MANE Select ENSP00000204679.4:p.Thr271=
ENST00000204679.8:c.813G= ENSP00000204679.4:p.Thr271=
ENST00000527076.1:n.2036G=
ENST00000527168.5:n.980G=
ENST00000529957.5:n.912G=
NM_032520.4:c.813G= NP_115909.1:p.Thr271=
XM_017023782.1:c.861G= XP_016879271.1:p.Thr287=
XM_017023783.1:c.453G= XP_016879272.1:p.Thr151=
NM_032520.5:c.813G= MANE Select NP_115909.1:p.Thr271=