Canonical Allele Identifier: CA2201615012
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362280G= , CM000678.2:g.1362280G= GRCh38
NC_000016.9:g.1412281G= , CM000678.1:g.1412281G= GRCh37
NC_000016.8:g.1352282G= NCBI36
NG_016985.1:g.15382G=
NG_033129.1:g.57425C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.585G=
ENST00000529110.2:c.570G= ENSP00000435349.2:p.Thr190=
ENST00000529957.6:n.544G=
ENST00000683366.1:c.*218G= ENSP00000507283.1:n.*218G=
ENST00000683887.1:c.534G= ENSP00000506886.1:p.Thr178=
ENST00000684100.1:n.480G=
ENST00000684126.1:n.544G=
ENST00000684688.1:n.1111G=
ENST00000204679.9:c.486G= MANE Select ENSP00000204679.4:p.Thr162=
ENST00000204679.8:c.486G= ENSP00000204679.4:p.Thr162=
ENST00000527076.1:n.1502G=
ENST00000527168.5:n.522G=
ENST00000529957.5:n.585G=
NM_032520.4:c.486G= NP_115909.1:p.Thr162=
XM_017023782.1:c.534G= XP_016879271.1:p.Thr178=
XM_017023783.1:c.126G= XP_016879272.1:p.Thr42=
NM_032520.5:c.486G= MANE Select NP_115909.1:p.Thr162=