Canonical Allele Identifier: CA473516692
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574697T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553150T>C , CM000673.2:g.17553150T>C GRCh38
NC_000011.9:g.17574697T>C , CM000673.1:g.17574697T>C GRCh37
NC_000011.8:g.17531273T>C NCBI36
NG_033191.1:g.10778T>C
NG_033191.2:g.10778T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.360T>C ENSP00000382323.2:p.Cys120=
ENST00000399397.6:c.324T>C MANE Select ENSP00000382329.2:p.Cys108=
ENST00000399391.6:c.360T>C ENSP00000382323.2:p.Cys120=
ENST00000399397.5:c.324T>C ENSP00000382329.2:p.Cys108=
ENST00000428619.1:c.141T>C ENSP00000399057.2:p.Cys47=
ENST00000498332.5:n.230T>C
NM_001277269.1:c.360T>C NP_001264198.1:p.Cys120=
NM_001292063.1:c.324T>C NP_001278992.1:p.Cys108=
NM_001277269.2:c.360T>C NP_001264198.1:p.Cys120=
NM_001292063.2:c.324T>C MANE Select NP_001278992.1:p.Cys108=