Canonical Allele Identifier: CA379811634
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553455C>A , CM000673.2:g.17553455C>A GRCh38
NC_000011.9:g.17575002C>A , CM000673.1:g.17575002C>A GRCh37
NC_000011.8:g.17531578C>A NCBI36
NG_033191.1:g.11083C>A
NG_033191.2:g.11083C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.512C>A ENSP00000382323.2:p.Ser171Tyr
ENST00000399397.6:c.476C>A MANE Select ENSP00000382329.2:p.Ser159Tyr
ENST00000399391.6:c.512C>A ENSP00000382323.2:p.Ser171Tyr
ENST00000399397.5:c.476C>A ENSP00000382329.2:p.Ser159Tyr
ENST00000498332.5:n.382C>A
NM_001277269.1:c.512C>A NP_001264198.1:p.Ser171Tyr
NM_001292063.1:c.476C>A NP_001278992.1:p.Ser159Tyr
NM_001277269.2:c.512C>A NP_001264198.1:p.Ser171Tyr
NM_001292063.2:c.476C>A MANE Select NP_001278992.1:p.Ser159Tyr