Canonical Allele Identifier: CA395062732
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710085A>C , CM000678.2:g.21710085A>C GRCh38
NC_000016.9:g.21721406A>C , CM000678.1:g.21721406A>C GRCh37
NC_000016.8:g.21628907A>C NCBI36
NG_012973.1:g.36572A>C
NG_012973.2:g.50953A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1302A>C ENSP00000373610.3:p.Lys434Asn
ENST00000646100.2:c.1302A>C MANE Select ENSP00000496564.2:p.Lys434Asn
ENST00000647277.1:c.*116A>C ENSP00000495594.1:n.*116A>C
ENST00000286149.8:c.1344A>C ENSP00000286149.4:p.Lys448Asn
ENST00000388956.8:c.1065A>C ENSP00000373608.4:p.Lys355Asn
ENST00000388957.3:c.330A>C ENSP00000373609.3:p.Lys110Asn
ENST00000388958.7:c.1302A>C ENSP00000373610.3:p.Lys434Asn
ENST00000563871.5:n.522A>C
NM_001161683.1:c.1065A>C NP_001155155.1:p.Lys355Asn
NM_144672.3:c.1302A>C NP_653273.3:p.Lys434Asn
NM_170664.2:c.330A>C NP_733764.1:p.Lys110Asn
XM_011545747.1:c.1302A>C XP_011544049.1:p.Lys434Asn
XM_011545748.1:c.171A>C XP_011544050.1:p.Lys57Asn
NM_144672.4:c.1302A>C MANE Select NP_653273.3:p.Lys434Asn
XM_011545748.2:c.171A>C XP_011544050.2:p.Lys57Asn
XR_002957775.1:n.397A>C
NM_001161683.2:c.1065A>C NP_001155155.1:p.Lys355Asn
NM_170664.3:c.330A>C NP_733764.1:p.Lys110Asn