Canonical Allele Identifier: CA2212563640
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710098G= , CM000678.2:g.21710098G= GRCh38
NC_000016.9:g.21721419G= , CM000678.1:g.21721419G= GRCh37
NC_000016.8:g.21628920G= NCBI36
NG_012973.1:g.36585G=
NG_012973.2:g.50966G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1315G= ENSP00000373610.3:p.Glu439=
ENST00000646100.2:c.1315G= MANE Select ENSP00000496564.2:p.Glu439=
ENST00000647277.1:c.*129G= ENSP00000495594.1:n.*129G=
ENST00000286149.8:c.1357G= ENSP00000286149.4:p.Glu453=
ENST00000388956.8:c.1078G= ENSP00000373608.4:p.Glu360=
ENST00000388957.3:c.343G= ENSP00000373609.3:p.Glu115=
ENST00000388958.7:c.1315G= ENSP00000373610.3:p.Glu439=
ENST00000563871.5:n.535G=
NM_001161683.1:c.1078G= NP_001155155.1:p.Glu360=
NM_144672.3:c.1315G= NP_653273.3:p.Glu439=
NM_170664.2:c.343G= NP_733764.1:p.Glu115=
XM_011545747.1:c.1315G= XP_011544049.1:p.Glu439=
XM_011545748.1:c.184G= XP_011544050.1:p.Glu62=
NM_144672.4:c.1315G= MANE Select NP_653273.3:p.Glu439=
XM_011545748.2:c.184G= XP_011544050.2:p.Glu62=
XR_002957775.1:n.410G=
NM_001161683.2:c.1078G= NP_001155155.1:p.Glu360=
NM_170664.3:c.343G= NP_733764.1:p.Glu115=