Canonical Allele Identifier: CA177534
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21730858C>T , CM000678.2:g.21730858C>T GRCh38
NC_000016.9:g.21742179C>T , CM000678.1:g.21742179C>T GRCh37
NC_000016.8:g.21649680C>T NCBI36
NG_012973.1:g.57345C>T
NG_012973.2:g.71726C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.2229C>T ENSP00000373610.3:p.Ala743=
ENST00000646100.2:c.2229C>T MANE Select ENSP00000496564.2:p.Ala743=
ENST00000647277.1:c.*1043C>T ENSP00000495594.1:n.*1043C>T
ENST00000286149.8:c.2271C>T ENSP00000286149.4:p.Ala757=
ENST00000388956.8:c.1992C>T ENSP00000373608.4:p.Ala664=
ENST00000388957.3:c.1257C>T ENSP00000373609.3:p.Ala419=
ENST00000388958.7:c.2229C>T ENSP00000373610.3:p.Ala743=
ENST00000563506.1:n.1288C>T
ENST00000563871.5:n.1692C>T
NM_001161683.1:c.1992C>T NP_001155155.1:p.Ala664=
NM_144672.3:c.2229C>T NP_653273.3:p.Ala743=
NM_170664.2:c.1257C>T NP_733764.1:p.Ala419=
XM_011545747.1:c.2229C>T XP_011544049.1:p.Ala743=
XM_011545748.1:c.1098C>T XP_011544050.1:p.Ala366=
NM_144672.4:c.2229C>T MANE Select NP_653273.3:p.Ala743=
XM_011545748.2:c.1098C>T XP_011544050.2:p.Ala366=
XM_017022951.1:c.495C>T XP_016878440.1:p.Ala165=
XR_002957775.1:n.1324C>T
NM_001161683.2:c.1992C>T NP_001155155.1:p.Ala664=
NM_170664.3:c.1257C>T NP_733764.1:p.Ala419=