Canonical Allele Identifier: CA395062036
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728275T>G , CM000678.2:g.21728275T>G GRCh38
NC_000016.9:g.21739596T>G , CM000678.1:g.21739596T>G GRCh37
NC_000016.8:g.21647097T>G NCBI36
NG_012973.1:g.54762T>G
NG_012973.2:g.69143T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.2051T>G ENSP00000373610.3:p.Ile684Ser
ENST00000646100.2:c.2051T>G MANE Select ENSP00000496564.2:p.Ile684Ser
ENST00000647277.1:c.*865T>G ENSP00000495594.1:n.*865T>G
ENST00000286149.8:c.2093T>G ENSP00000286149.4:p.Ile698Ser
ENST00000388956.8:c.1814T>G ENSP00000373608.4:p.Ile605Ser
ENST00000388957.3:c.1079T>G ENSP00000373609.3:p.Ile360Ser
ENST00000388958.7:c.2051T>G ENSP00000373610.3:p.Ile684Ser
ENST00000563871.5:n.1514T>G
NM_001161683.1:c.1814T>G NP_001155155.1:p.Ile605Ser
NM_144672.3:c.2051T>G NP_653273.3:p.Ile684Ser
NM_170664.2:c.1079T>G NP_733764.1:p.Ile360Ser
XM_011545747.1:c.2051T>G XP_011544049.1:p.Ile684Ser
XM_011545748.1:c.920T>G XP_011544050.1:p.Ile307Ser
NM_144672.4:c.2051T>G MANE Select NP_653273.3:p.Ile684Ser
XM_011545748.2:c.920T>G XP_011544050.2:p.Ile307Ser
XM_017022951.1:c.317T>G XP_016878440.1:p.Ile106Ser
XR_002957775.1:n.1146T>G
NM_001161683.2:c.1814T>G NP_001155155.1:p.Ile605Ser
NM_170664.3:c.1079T>G NP_733764.1:p.Ile360Ser