Canonical Allele Identifier: CA395062441
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709997T>G , CM000678.2:g.21709997T>G GRCh38
NC_000016.9:g.21721318T>G , CM000678.1:g.21721318T>G GRCh37
NC_000016.8:g.21628819T>G NCBI36
NG_012973.1:g.36484T>G
NG_012973.2:g.50865T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1214T>G ENSP00000373610.3:p.Leu405Arg
ENST00000646100.2:c.1214T>G MANE Select ENSP00000496564.2:p.Leu405Arg
ENST00000647277.1:c.*28T>G ENSP00000495594.1:n.*28T>G
ENST00000286149.8:c.1256T>G ENSP00000286149.4:p.Leu419Arg
ENST00000388956.8:c.977T>G ENSP00000373608.4:p.Leu326Arg
ENST00000388957.3:c.242T>G ENSP00000373609.3:p.Leu81Arg
ENST00000388958.7:c.1214T>G ENSP00000373610.3:p.Leu405Arg
ENST00000563871.5:n.434T>G
NM_001161683.1:c.977T>G NP_001155155.1:p.Leu326Arg
NM_144672.3:c.1214T>G NP_653273.3:p.Leu405Arg
NM_170664.2:c.242T>G NP_733764.1:p.Leu81Arg
XM_011545747.1:c.1214T>G XP_011544049.1:p.Leu405Arg
XM_011545748.1:c.83T>G XP_011544050.1:p.Leu28Arg
NM_144672.4:c.1214T>G MANE Select NP_653273.3:p.Leu405Arg
XM_011545748.2:c.83T>G XP_011544050.2:p.Leu28Arg
XR_002957775.1:n.309T>G
NM_001161683.2:c.977T>G NP_001155155.1:p.Leu326Arg
NM_170664.3:c.242T>G NP_733764.1:p.Leu81Arg