Canonical Allele Identifier: CA395062671
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710059A>C , CM000678.2:g.21710059A>C GRCh38
NC_000016.9:g.21721380A>C , CM000678.1:g.21721380A>C GRCh37
NC_000016.8:g.21628881A>C NCBI36
NG_012973.1:g.36546A>C
NG_012973.2:g.50927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1276A>C ENSP00000373610.3:p.Ser426Arg
ENST00000646100.2:c.1276A>C MANE Select ENSP00000496564.2:p.Ser426Arg
ENST00000647277.1:c.*90A>C ENSP00000495594.1:n.*90A>C
ENST00000286149.8:c.1318A>C ENSP00000286149.4:p.Ser440Arg
ENST00000388956.8:c.1039A>C ENSP00000373608.4:p.Ser347Arg
ENST00000388957.3:c.304A>C ENSP00000373609.3:p.Ser102Arg
ENST00000388958.7:c.1276A>C ENSP00000373610.3:p.Ser426Arg
ENST00000563871.5:n.496A>C
NM_001161683.1:c.1039A>C NP_001155155.1:p.Ser347Arg
NM_144672.3:c.1276A>C NP_653273.3:p.Ser426Arg
NM_170664.2:c.304A>C NP_733764.1:p.Ser102Arg
XM_011545747.1:c.1276A>C XP_011544049.1:p.Ser426Arg
XM_011545748.1:c.145A>C XP_011544050.1:p.Ser49Arg
NM_144672.4:c.1276A>C MANE Select NP_653273.3:p.Ser426Arg
XM_011545748.2:c.145A>C XP_011544050.2:p.Ser49Arg
XR_002957775.1:n.371A>C
NM_001161683.2:c.1039A>C NP_001155155.1:p.Ser347Arg
NM_170664.3:c.304A>C NP_733764.1:p.Ser102Arg