Canonical Allele Identifier: CA395062281
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709961C>T , CM000678.2:g.21709961C>T GRCh38
NC_000016.9:g.21721282C>T , CM000678.1:g.21721282C>T GRCh37
NC_000016.8:g.21628783C>T NCBI36
NG_012973.1:g.36448C>T
NG_012973.2:g.50829C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.1178C>T ENSP00000373610.3:p.Ala393Val
ENST00000646100.2:c.1178C>T MANE Select ENSP00000496564.2:p.Ala393Val
ENST00000647277.1:c.1054C>T ENSP00000495594.1:p.Gln352Ter
ENST00000286149.8:c.1220C>T ENSP00000286149.4:p.Ala407Val
ENST00000388956.8:c.941C>T ENSP00000373608.4:p.Ala314Val
ENST00000388957.3:c.206C>T ENSP00000373609.3:p.Ala69Val
ENST00000388958.7:c.1178C>T ENSP00000373610.3:p.Ala393Val
ENST00000563871.5:n.398C>T
NM_001161683.1:c.941C>T NP_001155155.1:p.Ala314Val
NM_144672.3:c.1178C>T NP_653273.3:p.Ala393Val
NM_170664.2:c.206C>T NP_733764.1:p.Ala69Val
XM_011545747.1:c.1178C>T XP_011544049.1:p.Ala393Val
XM_011545748.1:c.47C>T XP_011544050.1:p.Ala16Val
NM_144672.4:c.1178C>T MANE Select NP_653273.3:p.Ala393Val
XM_011545748.2:c.47C>T XP_011544050.2:p.Ala16Val
XR_002957775.1:n.273C>T
NM_001161683.2:c.941C>T NP_001155155.1:p.Ala314Val
NM_170664.3:c.206C>T NP_733764.1:p.Ala69Val