Canonical Allele Identifier: CA395062730
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710084A>T , CM000678.2:g.21710084A>T GRCh38
NC_000016.9:g.21721405A>T , CM000678.1:g.21721405A>T GRCh37
NC_000016.8:g.21628906A>T NCBI36
NG_012973.1:g.36571A>T
NG_012973.2:g.50952A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1301A>T ENSP00000373610.3:p.Lys434Ile
ENST00000646100.2:c.1301A>T MANE Select ENSP00000496564.2:p.Lys434Ile
ENST00000647277.1:c.*115A>T ENSP00000495594.1:n.*115A>T
ENST00000286149.8:c.1343A>T ENSP00000286149.4:p.Lys448Ile
ENST00000388956.8:c.1064A>T ENSP00000373608.4:p.Lys355Ile
ENST00000388957.3:c.329A>T ENSP00000373609.3:p.Lys110Ile
ENST00000388958.7:c.1301A>T ENSP00000373610.3:p.Lys434Ile
ENST00000563871.5:n.521A>T
NM_001161683.1:c.1064A>T NP_001155155.1:p.Lys355Ile
NM_144672.3:c.1301A>T NP_653273.3:p.Lys434Ile
NM_170664.2:c.329A>T NP_733764.1:p.Lys110Ile
XM_011545747.1:c.1301A>T XP_011544049.1:p.Lys434Ile
XM_011545748.1:c.170A>T XP_011544050.1:p.Lys57Ile
NM_144672.4:c.1301A>T MANE Select NP_653273.3:p.Lys434Ile
XM_011545748.2:c.170A>T XP_011544050.2:p.Lys57Ile
XR_002957775.1:n.396A>T
NM_001161683.2:c.1064A>T NP_001155155.1:p.Lys355Ile
NM_170664.3:c.329A>T NP_733764.1:p.Lys110Ile