Canonical Allele Identifier: CA395062305
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709967T>G , CM000678.2:g.21709967T>G GRCh38
NC_000016.9:g.21721288T>G , CM000678.1:g.21721288T>G GRCh37
NC_000016.8:g.21628789T>G NCBI36
NG_012973.1:g.36454T>G
NG_012973.2:g.50835T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1184T>G ENSP00000373610.3:p.Val395Gly
ENST00000646100.2:c.1184T>G MANE Select ENSP00000496564.2:p.Val395Gly
ENST00000647277.1:c.1060T>G ENSP00000495594.1:p.Ter354Glu
ENST00000286149.8:c.1226T>G ENSP00000286149.4:p.Val409Gly
ENST00000388956.8:c.947T>G ENSP00000373608.4:p.Val316Gly
ENST00000388957.3:c.212T>G ENSP00000373609.3:p.Val71Gly
ENST00000388958.7:c.1184T>G ENSP00000373610.3:p.Val395Gly
ENST00000563871.5:n.404T>G
NM_001161683.1:c.947T>G NP_001155155.1:p.Val316Gly
NM_144672.3:c.1184T>G NP_653273.3:p.Val395Gly
NM_170664.2:c.212T>G NP_733764.1:p.Val71Gly
XM_011545747.1:c.1184T>G XP_011544049.1:p.Val395Gly
XM_011545748.1:c.53T>G XP_011544050.1:p.Val18Gly
NM_144672.4:c.1184T>G MANE Select NP_653273.3:p.Val395Gly
XM_011545748.2:c.53T>G XP_011544050.2:p.Val18Gly
XR_002957775.1:n.279T>G
NM_001161683.2:c.947T>G NP_001155155.1:p.Val316Gly
NM_170664.3:c.212T>G NP_733764.1:p.Val71Gly