Canonical Allele Identifier: CA379803953
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612308C>A , CM000673.2:g.17612308C>A GRCh38
NC_000011.9:g.17633855C>A , CM000673.1:g.17633855C>A GRCh37
NC_000011.8:g.17590431C>A NCBI36
NG_033191.1:g.69936C>A
NG_033191.2:g.69936C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6306C>A ENSP00000382323.2:p.Cys2102Ter
ENST00000399397.6:c.6270C>A MANE Select ENSP00000382329.2:p.Cys2090Ter
ENST00000342528.2:c.3324C>A ENSP00000341666.2:p.Cys1108Ter
ENST00000399391.6:c.6306C>A ENSP00000382323.2:p.Cys2102Ter
ENST00000399397.5:c.6270C>A ENSP00000382329.2:p.Cys2090Ter
NM_001277269.1:c.6306C>A NP_001264198.1:p.Cys2102Ter
NM_001292063.1:c.6270C>A NP_001278992.1:p.Cys2090Ter
NM_001277269.2:c.6306C>A NP_001264198.1:p.Cys2102Ter
NM_001292063.2:c.6270C>A MANE Select NP_001278992.1:p.Cys2090Ter