Canonical Allele Identifier: CA2212563450
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709966G= , CM000678.2:g.21709966G= GRCh38
NC_000016.9:g.21721287G= , CM000678.1:g.21721287G= GRCh37
NC_000016.8:g.21628788G= NCBI36
NG_012973.1:g.36453G=
NG_012973.2:g.50834G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1183G= ENSP00000373610.3:p.Val395=
ENST00000646100.2:c.1183G= MANE Select ENSP00000496564.2:p.Val395=
ENST00000647277.1:c.1059G= ENSP00000495594.1:p.Leu353=
ENST00000286149.8:c.1225G= ENSP00000286149.4:p.Val409=
ENST00000388956.8:c.946G= ENSP00000373608.4:p.Val316=
ENST00000388957.3:c.211G= ENSP00000373609.3:p.Val71=
ENST00000388958.7:c.1183G= ENSP00000373610.3:p.Val395=
ENST00000563871.5:n.403G=
NM_001161683.1:c.946G= NP_001155155.1:p.Val316=
NM_144672.3:c.1183G= NP_653273.3:p.Val395=
NM_170664.2:c.211G= NP_733764.1:p.Val71=
XM_011545747.1:c.1183G= XP_011544049.1:p.Val395=
XM_011545748.1:c.52G= XP_011544050.1:p.Val18=
NM_144672.4:c.1183G= MANE Select NP_653273.3:p.Val395=
XM_011545748.2:c.52G= XP_011544050.2:p.Val18=
XR_002957775.1:n.278G=
NM_001161683.2:c.946G= NP_001155155.1:p.Val316=
NM_170664.3:c.211G= NP_733764.1:p.Val71=