Canonical Allele Identifier: CA473305805
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17634288A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612741A>C , CM000673.2:g.17612741A>C GRCh38
NC_000011.9:g.17634288A>C , CM000673.1:g.17634288A>C GRCh37
NC_000011.8:g.17590864A>C NCBI36
NG_033191.1:g.70369A>C
NG_033191.2:g.70369A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6450A>C ENSP00000382323.2:p.Val2150=
ENST00000399397.6:c.6414A>C MANE Select ENSP00000382329.2:p.Val2138=
ENST00000342528.2:c.3468A>C ENSP00000341666.2:p.Val1156=
ENST00000399391.6:c.6450A>C ENSP00000382323.2:p.Val2150=
ENST00000399397.5:c.6414A>C ENSP00000382329.2:p.Val2138=
NM_001277269.1:c.6450A>C NP_001264198.1:p.Val2150=
NM_001292063.1:c.6414A>C NP_001278992.1:p.Val2138=
NM_001277269.2:c.6450A>C NP_001264198.1:p.Val2150=
NM_001292063.2:c.6414A>C MANE Select NP_001278992.1:p.Val2138=