Canonical Allele Identifier: CA2212563464
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709973T= , CM000678.2:g.21709973T= GRCh38
NC_000016.9:g.21721294T= , CM000678.1:g.21721294T= GRCh37
NC_000016.8:g.21628795T= NCBI36
NG_012973.1:g.36460T=
NG_012973.2:g.50841T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1190T= ENSP00000373610.3:p.Leu397=
ENST00000646100.2:c.1190T= MANE Select ENSP00000496564.2:p.Leu397=
ENST00000647277.1:c.*4T= ENSP00000495594.1:n.*4T=
ENST00000286149.8:c.1232T= ENSP00000286149.4:p.Leu411=
ENST00000388956.8:c.953T= ENSP00000373608.4:p.Leu318=
ENST00000388957.3:c.218T= ENSP00000373609.3:p.Leu73=
ENST00000388958.7:c.1190T= ENSP00000373610.3:p.Leu397=
ENST00000563871.5:n.410T=
NM_001161683.1:c.953T= NP_001155155.1:p.Leu318=
NM_144672.3:c.1190T= NP_653273.3:p.Leu397=
NM_170664.2:c.218T= NP_733764.1:p.Leu73=
XM_011545747.1:c.1190T= XP_011544049.1:p.Leu397=
XM_011545748.1:c.59T= XP_011544050.1:p.Leu20=
NM_144672.4:c.1190T= MANE Select NP_653273.3:p.Leu397=
XM_011545748.2:c.59T= XP_011544050.2:p.Leu20=
XR_002957775.1:n.285T=
NM_001161683.2:c.953T= NP_001155155.1:p.Leu318=
NM_170664.3:c.218T= NP_733764.1:p.Leu73=