Canonical Allele Identifier: CA395062772
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710102A>C , CM000678.2:g.21710102A>C GRCh38
NC_000016.9:g.21721423A>C , CM000678.1:g.21721423A>C GRCh37
NC_000016.8:g.21628924A>C NCBI36
NG_012973.1:g.36589A>C
NG_012973.2:g.50970A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1319A>C ENSP00000373610.3:p.Lys440Thr
ENST00000646100.2:c.1319A>C MANE Select ENSP00000496564.2:p.Lys440Thr
ENST00000647277.1:c.*133A>C ENSP00000495594.1:n.*133A>C
ENST00000286149.8:c.1361A>C ENSP00000286149.4:p.Lys454Thr
ENST00000388956.8:c.1082A>C ENSP00000373608.4:p.Lys361Thr
ENST00000388957.3:c.347A>C ENSP00000373609.3:p.Lys116Thr
ENST00000388958.7:c.1319A>C ENSP00000373610.3:p.Lys440Thr
ENST00000563871.5:n.539A>C
NM_001161683.1:c.1082A>C NP_001155155.1:p.Lys361Thr
NM_144672.3:c.1319A>C NP_653273.3:p.Lys440Thr
NM_170664.2:c.347A>C NP_733764.1:p.Lys116Thr
XM_011545747.1:c.1319A>C XP_011544049.1:p.Lys440Thr
XM_011545748.1:c.188A>C XP_011544050.1:p.Lys63Thr
NM_144672.4:c.1319A>C MANE Select NP_653273.3:p.Lys440Thr
XM_011545748.2:c.188A>C XP_011544050.2:p.Lys63Thr
XR_002957775.1:n.414A>C
NM_001161683.2:c.1082A>C NP_001155155.1:p.Lys361Thr
NM_170664.3:c.347A>C NP_733764.1:p.Lys116Thr