Canonical Allele Identifier: CA2201615425
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362840T= , CM000678.2:g.1362840T= GRCh38
NC_000016.9:g.1412841T= , CM000678.1:g.1412841T= GRCh37
NC_000016.8:g.1352842T= NCBI36
NG_016985.1:g.15942T=
NG_033129.1:g.56865A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.856T=
ENST00000529110.2:c.841T= ENSP00000435349.2:p.Ser281=
ENST00000529957.6:n.815T=
ENST00000683366.1:c.*489T= ENSP00000507283.1:n.*489T=
ENST00000683887.1:c.805T= ENSP00000506886.1:p.Ser269=
ENST00000684100.1:n.751T=
ENST00000684126.1:n.891T=
ENST00000684688.1:n.1382T=
ENST00000204679.9:c.757T= MANE Select ENSP00000204679.4:p.Ser253=
ENST00000204679.8:c.757T= ENSP00000204679.4:p.Ser253=
ENST00000527076.1:n.1980T=
ENST00000527168.5:n.924T=
ENST00000529957.5:n.856T=
NM_032520.4:c.757T= NP_115909.1:p.Ser253=
XM_017023782.1:c.805T= XP_016879271.1:p.Ser269=
XM_017023783.1:c.397T= XP_016879272.1:p.Ser133=
NM_032520.5:c.757T= MANE Select NP_115909.1:p.Ser253=