Canonical Allele Identifier: CA473516744
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574940C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553393C>T , CM000673.2:g.17553393C>T GRCh38
NC_000011.9:g.17574940C>T , CM000673.1:g.17574940C>T GRCh37
NC_000011.8:g.17531516C>T NCBI36
NG_033191.1:g.11021C>T
NG_033191.2:g.11021C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.450C>T ENSP00000382323.2:p.Ser150=
ENST00000399397.6:c.414C>T MANE Select ENSP00000382329.2:p.Ser138=
ENST00000399391.6:c.450C>T ENSP00000382323.2:p.Ser150=
ENST00000399397.5:c.414C>T ENSP00000382329.2:p.Ser138=
ENST00000428619.1:c.231C>T ENSP00000399057.2:p.Ser77=
ENST00000498332.5:n.320C>T
NM_001277269.1:c.450C>T NP_001264198.1:p.Ser150=
NM_001292063.1:c.414C>T NP_001278992.1:p.Ser138=
NM_001277269.2:c.450C>T NP_001264198.1:p.Ser150=
NM_001292063.2:c.414C>T MANE Select NP_001278992.1:p.Ser138=