Canonical Allele Identifier: CA395061913
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709889T>G , CM000678.2:g.21709889T>G GRCh38
NC_000016.9:g.21721210T>G , CM000678.1:g.21721210T>G GRCh37
NC_000016.8:g.21628711T>G NCBI36
NG_012973.1:g.36376T>G
NG_012973.2:g.50757T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1106T>G ENSP00000373610.3:p.Leu369Arg
ENST00000646100.2:c.1106T>G MANE Select ENSP00000496564.2:p.Leu369Arg
ENST00000647277.1:c.982T>G ENSP00000495594.1:p.Ser328Ala
ENST00000286149.8:c.1148T>G ENSP00000286149.4:p.Leu383Arg
ENST00000388956.8:c.869T>G ENSP00000373608.4:p.Leu290Arg
ENST00000388957.3:c.134T>G ENSP00000373609.3:p.Leu45Arg
ENST00000388958.7:c.1106T>G ENSP00000373610.3:p.Leu369Arg
ENST00000563871.5:n.326T>G
ENST00000569064.1:n.480T>G
NM_001161683.1:c.869T>G NP_001155155.1:p.Leu290Arg
NM_144672.3:c.1106T>G NP_653273.3:p.Leu369Arg
NM_170664.2:c.134T>G NP_733764.1:p.Leu45Arg
XM_011545747.1:c.1106T>G XP_011544049.1:p.Leu369Arg
XM_011545748.1:c.-26T>G XP_011544050.1:n.-26T>G
NM_144672.4:c.1106T>G MANE Select NP_653273.3:p.Leu369Arg
XM_011545748.2:c.-26T>G XP_011544050.2:n.-26T>G
XR_002957775.1:n.201T>G
NM_001161683.2:c.869T>G NP_001155155.1:p.Leu290Arg
NM_170664.3:c.134T>G NP_733764.1:p.Leu45Arg