Canonical Allele Identifier: CA473305623
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17633873T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6324T>C ENSP00000382323.2:p.Cys2108=
ENST00000399397.6:c.6288T>C MANE Select ENSP00000382329.2:p.Cys2096=
ENST00000342528.2:c.3342T>C ENSP00000341666.2:p.Cys1114=
ENST00000399391.6:c.6324T>C ENSP00000382323.2:p.Cys2108=
ENST00000399397.5:c.6288T>C ENSP00000382329.2:p.Cys2096=
NM_001277269.1:c.6324T>C NP_001264198.1:p.Cys2108=
NM_001292063.1:c.6288T>C NP_001278992.1:p.Cys2096=
NM_001277269.2:c.6324T>C NP_001264198.1:p.Cys2108=
NM_001292063.2:c.6288T>C MANE Select NP_001278992.1:p.Cys2096=