Canonical Allele Identifier: CA379803936
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17633853T>C (hg19) chr11:g.17612306T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612306T>C , CM000673.2:g.17612306T>C GRCh38
NC_000011.9:g.17633853T>C , CM000673.1:g.17633853T>C GRCh37
NC_000011.8:g.17590429T>C NCBI36
NG_033191.1:g.69934T>C
NG_033191.2:g.69934T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6304T>C ENSP00000382323.2:p.Cys2102Arg
ENST00000399397.6:c.6268T>C MANE Select ENSP00000382329.2:p.Cys2090Arg
ENST00000342528.2:c.3322T>C ENSP00000341666.2:p.Cys1108Arg
ENST00000399391.6:c.6304T>C ENSP00000382323.2:p.Cys2102Arg
ENST00000399397.5:c.6268T>C ENSP00000382329.2:p.Cys2090Arg
NM_001277269.1:c.6304T>C NP_001264198.1:p.Cys2102Arg
NM_001292063.1:c.6268T>C NP_001278992.1:p.Cys2090Arg
NM_001277269.2:c.6304T>C NP_001264198.1:p.Cys2102Arg
NM_001292063.2:c.6268T>C MANE Select NP_001278992.1:p.Cys2090Arg
Search 100 bp 5'
Search 100 bp 3'