Canonical Allele Identifier: CA395062677
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710061C>A , CM000678.2:g.21710061C>A GRCh38
NC_000016.9:g.21721382C>A , CM000678.1:g.21721382C>A GRCh37
NC_000016.8:g.21628883C>A NCBI36
NG_012973.1:g.36548C>A
NG_012973.2:g.50929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1278C>A ENSP00000373610.3:p.Ser426Arg
ENST00000646100.2:c.1278C>A MANE Select ENSP00000496564.2:p.Ser426Arg
ENST00000647277.1:c.*92C>A ENSP00000495594.1:n.*92C>A
ENST00000286149.8:c.1320C>A ENSP00000286149.4:p.Ser440Arg
ENST00000388956.8:c.1041C>A ENSP00000373608.4:p.Ser347Arg
ENST00000388957.3:c.306C>A ENSP00000373609.3:p.Ser102Arg
ENST00000388958.7:c.1278C>A ENSP00000373610.3:p.Ser426Arg
ENST00000563871.5:n.498C>A
NM_001161683.1:c.1041C>A NP_001155155.1:p.Ser347Arg
NM_144672.3:c.1278C>A NP_653273.3:p.Ser426Arg
NM_170664.2:c.306C>A NP_733764.1:p.Ser102Arg
XM_011545747.1:c.1278C>A XP_011544049.1:p.Ser426Arg
XM_011545748.1:c.147C>A XP_011544050.1:p.Ser49Arg
NM_144672.4:c.1278C>A MANE Select NP_653273.3:p.Ser426Arg
XM_011545748.2:c.147C>A XP_011544050.2:p.Ser49Arg
XR_002957775.1:n.373C>A
NM_001161683.2:c.1041C>A NP_001155155.1:p.Ser347Arg
NM_170664.3:c.306C>A NP_733764.1:p.Ser102Arg