Canonical Allele Identifier: CA473516741
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574932A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553385A>C , CM000673.2:g.17553385A>C GRCh38
NC_000011.9:g.17574932A>C , CM000673.1:g.17574932A>C GRCh37
NC_000011.8:g.17531508A>C NCBI36
NG_033191.1:g.11013A>C
NG_033191.2:g.11013A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.442A>C ENSP00000382323.2:p.Arg148=
ENST00000399397.6:c.406A>C MANE Select ENSP00000382329.2:p.Arg136=
ENST00000399391.6:c.442A>C ENSP00000382323.2:p.Arg148=
ENST00000399397.5:c.406A>C ENSP00000382329.2:p.Arg136=
ENST00000428619.1:c.223A>C ENSP00000399057.2:p.Arg75=
ENST00000498332.5:n.312A>C
NM_001277269.1:c.442A>C NP_001264198.1:p.Arg148=
NM_001292063.1:c.406A>C NP_001278992.1:p.Arg136=
NM_001277269.2:c.442A>C NP_001264198.1:p.Arg148=
NM_001292063.2:c.406A>C MANE Select NP_001278992.1:p.Arg136=