Canonical Allele Identifier: CA395062483
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710006A>C , CM000678.2:g.21710006A>C GRCh38
NC_000016.9:g.21721327A>C , CM000678.1:g.21721327A>C GRCh37
NC_000016.8:g.21628828A>C NCBI36
NG_012973.1:g.36493A>C
NG_012973.2:g.50874A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1223A>C ENSP00000373610.3:p.Glu408Ala
ENST00000646100.2:c.1223A>C MANE Select ENSP00000496564.2:p.Glu408Ala
ENST00000647277.1:c.*37A>C ENSP00000495594.1:n.*37A>C
ENST00000286149.8:c.1265A>C ENSP00000286149.4:p.Glu422Ala
ENST00000388956.8:c.986A>C ENSP00000373608.4:p.Glu329Ala
ENST00000388957.3:c.251A>C ENSP00000373609.3:p.Glu84Ala
ENST00000388958.7:c.1223A>C ENSP00000373610.3:p.Glu408Ala
ENST00000563871.5:n.443A>C
NM_001161683.1:c.986A>C NP_001155155.1:p.Glu329Ala
NM_144672.3:c.1223A>C NP_653273.3:p.Glu408Ala
NM_170664.2:c.251A>C NP_733764.1:p.Glu84Ala
XM_011545747.1:c.1223A>C XP_011544049.1:p.Glu408Ala
XM_011545748.1:c.92A>C XP_011544050.1:p.Glu31Ala
NM_144672.4:c.1223A>C MANE Select NP_653273.3:p.Glu408Ala
XM_011545748.2:c.92A>C XP_011544050.2:p.Glu31Ala
XR_002957775.1:n.318A>C
NM_001161683.2:c.986A>C NP_001155155.1:p.Glu329Ala
NM_170664.3:c.251A>C NP_733764.1:p.Glu84Ala