Canonical Allele Identifier: CA395062626
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710038C>A , CM000678.2:g.21710038C>A GRCh38
NC_000016.9:g.21721359C>A , CM000678.1:g.21721359C>A GRCh37
NC_000016.8:g.21628860C>A NCBI36
NG_012973.1:g.36525C>A
NG_012973.2:g.50906C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1255C>A ENSP00000373610.3:p.Gln419Lys
ENST00000646100.2:c.1255C>A MANE Select ENSP00000496564.2:p.Gln419Lys
ENST00000647277.1:c.*69C>A ENSP00000495594.1:n.*69C>A
ENST00000286149.8:c.1297C>A ENSP00000286149.4:p.Gln433Lys
ENST00000388956.8:c.1018C>A ENSP00000373608.4:p.Gln340Lys
ENST00000388957.3:c.283C>A ENSP00000373609.3:p.Gln95Lys
ENST00000388958.7:c.1255C>A ENSP00000373610.3:p.Gln419Lys
ENST00000563871.5:n.475C>A
NM_001161683.1:c.1018C>A NP_001155155.1:p.Gln340Lys
NM_144672.3:c.1255C>A NP_653273.3:p.Gln419Lys
NM_170664.2:c.283C>A NP_733764.1:p.Gln95Lys
XM_011545747.1:c.1255C>A XP_011544049.1:p.Gln419Lys
XM_011545748.1:c.124C>A XP_011544050.1:p.Gln42Lys
NM_144672.4:c.1255C>A MANE Select NP_653273.3:p.Gln419Lys
XM_011545748.2:c.124C>A XP_011544050.2:p.Gln42Lys
XR_002957775.1:n.350C>A
NM_001161683.2:c.1018C>A NP_001155155.1:p.Gln340Lys
NM_170664.3:c.283C>A NP_733764.1:p.Gln95Lys