Canonical Allele Identifier: CA395062453
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709999T>G , CM000678.2:g.21709999T>G GRCh38
NC_000016.9:g.21721320T>G , CM000678.1:g.21721320T>G GRCh37
NC_000016.8:g.21628821T>G NCBI36
NG_012973.1:g.36486T>G
NG_012973.2:g.50867T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1216T>G ENSP00000373610.3:p.Ser406Ala
ENST00000646100.2:c.1216T>G MANE Select ENSP00000496564.2:p.Ser406Ala
ENST00000647277.1:c.*30T>G ENSP00000495594.1:n.*30T>G
ENST00000286149.8:c.1258T>G ENSP00000286149.4:p.Ser420Ala
ENST00000388956.8:c.979T>G ENSP00000373608.4:p.Ser327Ala
ENST00000388957.3:c.244T>G ENSP00000373609.3:p.Ser82Ala
ENST00000388958.7:c.1216T>G ENSP00000373610.3:p.Ser406Ala
ENST00000563871.5:n.436T>G
NM_001161683.1:c.979T>G NP_001155155.1:p.Ser327Ala
NM_144672.3:c.1216T>G NP_653273.3:p.Ser406Ala
NM_170664.2:c.244T>G NP_733764.1:p.Ser82Ala
XM_011545747.1:c.1216T>G XP_011544049.1:p.Ser406Ala
XM_011545748.1:c.85T>G XP_011544050.1:p.Ser29Ala
NM_144672.4:c.1216T>G MANE Select NP_653273.3:p.Ser406Ala
XM_011545748.2:c.85T>G XP_011544050.2:p.Ser29Ala
XR_002957775.1:n.311T>G
NM_001161683.2:c.979T>G NP_001155155.1:p.Ser327Ala
NM_170664.3:c.244T>G NP_733764.1:p.Ser82Ala