Canonical Allele Identifier: CA379811597
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553448T>A , CM000673.2:g.17553448T>A GRCh38
NC_000011.9:g.17574995T>A , CM000673.1:g.17574995T>A GRCh37
NC_000011.8:g.17531571T>A NCBI36
NG_033191.1:g.11076T>A
NG_033191.2:g.11076T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.505T>A ENSP00000382323.2:p.Tyr169Asn
ENST00000399397.6:c.469T>A MANE Select ENSP00000382329.2:p.Tyr157Asn
ENST00000399391.6:c.505T>A ENSP00000382323.2:p.Tyr169Asn
ENST00000399397.5:c.469T>A ENSP00000382329.2:p.Tyr157Asn
ENST00000498332.5:n.375T>A
NM_001277269.1:c.505T>A NP_001264198.1:p.Tyr169Asn
NM_001292063.1:c.469T>A NP_001278992.1:p.Tyr157Asn
NM_001277269.2:c.505T>A NP_001264198.1:p.Tyr169Asn
NM_001292063.2:c.469T>A MANE Select NP_001278992.1:p.Tyr157Asn