Canonical Allele Identifier: CA218489864
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs560827829

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553199C>T , CM000673.2:g.17553199C>T GRCh38
NC_000011.9:g.17574746C>T , CM000673.1:g.17574746C>T GRCh37
NC_000011.8:g.17531322C>T NCBI36
NG_033191.1:g.10827C>T
NG_033191.2:g.10827C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.409C>T ENSP00000382323.2:p.Arg137Cys
ENST00000399397.6:c.373C>T MANE Select ENSP00000382329.2:p.Arg125Cys
ENST00000399391.6:c.409C>T ENSP00000382323.2:p.Arg137Cys
ENST00000399397.5:c.373C>T ENSP00000382329.2:p.Arg125Cys
ENST00000428619.1:c.190C>T ENSP00000399057.2:p.Arg64Cys
ENST00000498332.5:n.279C>T
NM_001277269.1:c.409C>T NP_001264198.1:p.Arg137Cys
NM_001292063.1:c.373C>T NP_001278992.1:p.Arg125Cys
NM_001277269.2:c.409C>T NP_001264198.1:p.Arg137Cys
NM_001292063.2:c.373C>T MANE Select NP_001278992.1:p.Arg125Cys