Canonical Allele Identifier: CA379813121
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635184T>A , CM000673.2:g.17635184T>A GRCh38
NC_000011.9:g.17656731T>A , CM000673.1:g.17656731T>A GRCh37
NC_000011.8:g.17613307T>A NCBI36
NG_033191.1:g.92812T>A
NG_033191.2:g.92812T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7726T>A ENSP00000382323.2:p.Cys2576Ser
ENST00000399397.6:c.7690T>A MANE Select ENSP00000382329.2:p.Cys2564Ser
ENST00000342528.2:c.4322-426T>A ENSP00000341666.2:n.4322-426T>A
ENST00000399391.6:c.7726T>A ENSP00000382323.2:p.Cys2576Ser
ENST00000399397.5:c.7690T>A ENSP00000382329.2:p.Cys2564Ser
NM_001277269.1:c.7726T>A NP_001264198.1:p.Cys2576Ser
NM_001292063.1:c.7690T>A NP_001278992.1:p.Cys2564Ser
NM_001277269.2:c.7726T>A NP_001264198.1:p.Cys2576Ser
NM_001292063.2:c.7690T>A MANE Select NP_001278992.1:p.Cys2564Ser