Canonical Allele Identifier: CA395062425
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709993T>C , CM000678.2:g.21709993T>C GRCh38
NC_000016.9:g.21721314T>C , CM000678.1:g.21721314T>C GRCh37
NC_000016.8:g.21628815T>C NCBI36
NG_012973.1:g.36480T>C
NG_012973.2:g.50861T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1210T>C ENSP00000373610.3:p.Ser404Pro
ENST00000646100.2:c.1210T>C MANE Select ENSP00000496564.2:p.Ser404Pro
ENST00000647277.1:c.*24T>C ENSP00000495594.1:n.*24T>C
ENST00000286149.8:c.1252T>C ENSP00000286149.4:p.Ser418Pro
ENST00000388956.8:c.973T>C ENSP00000373608.4:p.Ser325Pro
ENST00000388957.3:c.238T>C ENSP00000373609.3:p.Ser80Pro
ENST00000388958.7:c.1210T>C ENSP00000373610.3:p.Ser404Pro
ENST00000563871.5:n.430T>C
NM_001161683.1:c.973T>C NP_001155155.1:p.Ser325Pro
NM_144672.3:c.1210T>C NP_653273.3:p.Ser404Pro
NM_170664.2:c.238T>C NP_733764.1:p.Ser80Pro
XM_011545747.1:c.1210T>C XP_011544049.1:p.Ser404Pro
XM_011545748.1:c.79T>C XP_011544050.1:p.Ser27Pro
NM_144672.4:c.1210T>C MANE Select NP_653273.3:p.Ser404Pro
XM_011545748.2:c.79T>C XP_011544050.2:p.Ser27Pro
XR_002957775.1:n.305T>C
NM_001161683.2:c.973T>C NP_001155155.1:p.Ser325Pro
NM_170664.3:c.238T>C NP_733764.1:p.Ser80Pro