Canonical Allele Identifier: CA395062288
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709964T>A , CM000678.2:g.21709964T>A GRCh38
NC_000016.9:g.21721285T>A , CM000678.1:g.21721285T>A GRCh37
NC_000016.8:g.21628786T>A NCBI36
NG_012973.1:g.36451T>A
NG_012973.2:g.50832T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1181T>A ENSP00000373610.3:p.Val394Asp
ENST00000646100.2:c.1181T>A MANE Select ENSP00000496564.2:p.Val394Asp
ENST00000647277.1:c.1057T>A ENSP00000495594.1:p.Leu353Met
ENST00000286149.8:c.1223T>A ENSP00000286149.4:p.Val408Asp
ENST00000388956.8:c.944T>A ENSP00000373608.4:p.Val315Asp
ENST00000388957.3:c.209T>A ENSP00000373609.3:p.Val70Asp
ENST00000388958.7:c.1181T>A ENSP00000373610.3:p.Val394Asp
ENST00000563871.5:n.401T>A
NM_001161683.1:c.944T>A NP_001155155.1:p.Val315Asp
NM_144672.3:c.1181T>A NP_653273.3:p.Val394Asp
NM_170664.2:c.209T>A NP_733764.1:p.Val70Asp
XM_011545747.1:c.1181T>A XP_011544049.1:p.Val394Asp
XM_011545748.1:c.50T>A XP_011544050.1:p.Val17Asp
NM_144672.4:c.1181T>A MANE Select NP_653273.3:p.Val394Asp
XM_011545748.2:c.50T>A XP_011544050.2:p.Val17Asp
XR_002957775.1:n.276T>A
NM_001161683.2:c.944T>A NP_001155155.1:p.Val315Asp
NM_170664.3:c.209T>A NP_733764.1:p.Val70Asp