Canonical Allele Identifier: CA379804058
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612326T>A , CM000673.2:g.17612326T>A GRCh38
NC_000011.9:g.17633873T>A , CM000673.1:g.17633873T>A GRCh37
NC_000011.8:g.17590449T>A NCBI36
NG_033191.1:g.69954T>A
NG_033191.2:g.69954T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6324T>A ENSP00000382323.2:p.Cys2108Ter
ENST00000399397.6:c.6288T>A MANE Select ENSP00000382329.2:p.Cys2096Ter
ENST00000342528.2:c.3342T>A ENSP00000341666.2:p.Cys1114Ter
ENST00000399391.6:c.6324T>A ENSP00000382323.2:p.Cys2108Ter
ENST00000399397.5:c.6288T>A ENSP00000382329.2:p.Cys2096Ter
NM_001277269.1:c.6324T>A NP_001264198.1:p.Cys2108Ter
NM_001292063.1:c.6288T>A NP_001278992.1:p.Cys2096Ter
NM_001277269.2:c.6324T>A NP_001264198.1:p.Cys2108Ter
NM_001292063.2:c.6288T>A MANE Select NP_001278992.1:p.Cys2096Ter