Canonical Allele Identifier: CA177523
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21705283C>T , CM000678.2:g.21705283C>T GRCh38
NC_000016.9:g.21716604C>T , CM000678.1:g.21716604C>T GRCh37
NC_000016.8:g.21624105C>T NCBI36
NG_012973.1:g.31770C>T
NG_012973.2:g.46151C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1095C>T ENSP00000373610.3:p.Gly365=
ENST00000646100.2:c.1095C>T MANE Select ENSP00000496564.2:p.Gly365=
ENST00000647277.1:c.980+4256C>T ENSP00000495594.1:n.980+4256C>T
ENST00000286149.8:c.1137C>T ENSP00000286149.4:p.Gly379=
ENST00000388956.8:c.858C>T ENSP00000373608.4:p.Gly286=
ENST00000388957.3:c.123C>T ENSP00000373609.3:p.Gly41=
ENST00000388958.7:c.1095C>T ENSP00000373610.3:p.Gly365=
ENST00000563871.5:n.315C>T
ENST00000569064.1:n.317C>T
NM_001161683.1:c.858C>T NP_001155155.1:p.Gly286=
NM_144672.3:c.1095C>T NP_653273.3:p.Gly365=
NM_170664.2:c.123C>T NP_733764.1:p.Gly41=
XM_011545747.1:c.1095C>T XP_011544049.1:p.Gly365=
XM_011545748.1:c.-189C>T XP_011544050.1:n.-189C>T
NM_144672.4:c.1095C>T MANE Select NP_653273.3:p.Gly365=
XM_011545748.2:c.-189C>T XP_011544050.2:n.-189C>T
XR_002957775.1:n.190C>T
NM_001161683.2:c.858C>T NP_001155155.1:p.Gly286=
NM_170664.3:c.123C>T NP_733764.1:p.Gly41=