Canonical Allele Identifier: CA395062463
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710002C>A , CM000678.2:g.21710002C>A GRCh38
NC_000016.9:g.21721323C>A , CM000678.1:g.21721323C>A GRCh37
NC_000016.8:g.21628824C>A NCBI36
NG_012973.1:g.36489C>A
NG_012973.2:g.50870C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1219C>A ENSP00000373610.3:p.Pro407Thr
ENST00000646100.2:c.1219C>A MANE Select ENSP00000496564.2:p.Pro407Thr
ENST00000647277.1:c.*33C>A ENSP00000495594.1:n.*33C>A
ENST00000286149.8:c.1261C>A ENSP00000286149.4:p.Pro421Thr
ENST00000388956.8:c.982C>A ENSP00000373608.4:p.Pro328Thr
ENST00000388957.3:c.247C>A ENSP00000373609.3:p.Pro83Thr
ENST00000388958.7:c.1219C>A ENSP00000373610.3:p.Pro407Thr
ENST00000563871.5:n.439C>A
NM_001161683.1:c.982C>A NP_001155155.1:p.Pro328Thr
NM_144672.3:c.1219C>A NP_653273.3:p.Pro407Thr
NM_170664.2:c.247C>A NP_733764.1:p.Pro83Thr
XM_011545747.1:c.1219C>A XP_011544049.1:p.Pro407Thr
XM_011545748.1:c.88C>A XP_011544050.1:p.Pro30Thr
NM_144672.4:c.1219C>A MANE Select NP_653273.3:p.Pro407Thr
XM_011545748.2:c.88C>A XP_011544050.2:p.Pro30Thr
XR_002957775.1:n.314C>A
NM_001161683.2:c.982C>A NP_001155155.1:p.Pro328Thr
NM_170664.3:c.247C>A NP_733764.1:p.Pro83Thr