Canonical Allele Identifier: CA2212577067
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728286C= , CM000678.2:g.21728286C= GRCh38
NC_000016.9:g.21739607C= , CM000678.1:g.21739607C= GRCh37
NC_000016.8:g.21647108C= NCBI36
NG_012973.1:g.54773C=
NG_012973.2:g.69154C=

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.2062C= ENSP00000373610.3:p.Leu688=
ENST00000646100.2:c.2062C= MANE Select ENSP00000496564.2:p.Leu688=
ENST00000647277.1:c.*876C= ENSP00000495594.1:n.*876C=
ENST00000286149.8:c.2104C= ENSP00000286149.4:p.Leu702=
ENST00000388956.8:c.1825C= ENSP00000373608.4:p.Leu609=
ENST00000388957.3:c.1090C= ENSP00000373609.3:p.Leu364=
ENST00000388958.7:c.2062C= ENSP00000373610.3:p.Leu688=
ENST00000563871.5:n.1525C=
NM_001161683.1:c.1825C= NP_001155155.1:p.Leu609=
NM_144672.3:c.2062C= NP_653273.3:p.Leu688=
NM_170664.2:c.1090C= NP_733764.1:p.Leu364=
XM_011545747.1:c.2062C= XP_011544049.1:p.Leu688=
XM_011545748.1:c.931C= XP_011544050.1:p.Leu311=
NM_144672.4:c.2062C= MANE Select NP_653273.3:p.Leu688=
XM_011545748.2:c.931C= XP_011544050.2:p.Leu311=
XM_017022951.1:c.328C= XP_016878440.1:p.Leu110=
XR_002957775.1:n.1157C=
NM_001161683.2:c.1825C= NP_001155155.1:p.Leu609=
NM_170664.3:c.1090C= NP_733764.1:p.Leu364=