Canonical Allele Identifier: CA379804045
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612324T>A , CM000673.2:g.17612324T>A GRCh38
NC_000011.9:g.17633871T>A , CM000673.1:g.17633871T>A GRCh37
NC_000011.8:g.17590447T>A NCBI36
NG_033191.1:g.69952T>A
NG_033191.2:g.69952T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6322T>A ENSP00000382323.2:p.Cys2108Ser
ENST00000399397.6:c.6286T>A MANE Select ENSP00000382329.2:p.Cys2096Ser
ENST00000342528.2:c.3340T>A ENSP00000341666.2:p.Cys1114Ser
ENST00000399391.6:c.6322T>A ENSP00000382323.2:p.Cys2108Ser
ENST00000399397.5:c.6286T>A ENSP00000382329.2:p.Cys2096Ser
NM_001277269.1:c.6322T>A NP_001264198.1:p.Cys2108Ser
NM_001292063.1:c.6286T>A NP_001278992.1:p.Cys2096Ser
NM_001277269.2:c.6322T>A NP_001264198.1:p.Cys2108Ser
NM_001292063.2:c.6286T>A MANE Select NP_001278992.1:p.Cys2096Ser