Canonical Allele Identifier: CA2212563643
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710099A= , CM000678.2:g.21710099A= GRCh38
NC_000016.9:g.21721420A= , CM000678.1:g.21721420A= GRCh37
NC_000016.8:g.21628921A= NCBI36
NG_012973.1:g.36586A=
NG_012973.2:g.50967A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1316A= ENSP00000373610.3:p.Glu439=
ENST00000646100.2:c.1316A= MANE Select ENSP00000496564.2:p.Glu439=
ENST00000647277.1:c.*130A= ENSP00000495594.1:n.*130A=
ENST00000286149.8:c.1358A= ENSP00000286149.4:p.Glu453=
ENST00000388956.8:c.1079A= ENSP00000373608.4:p.Glu360=
ENST00000388957.3:c.344A= ENSP00000373609.3:p.Glu115=
ENST00000388958.7:c.1316A= ENSP00000373610.3:p.Glu439=
ENST00000563871.5:n.536A=
NM_001161683.1:c.1079A= NP_001155155.1:p.Glu360=
NM_144672.3:c.1316A= NP_653273.3:p.Glu439=
NM_170664.2:c.344A= NP_733764.1:p.Glu115=
XM_011545747.1:c.1316A= XP_011544049.1:p.Glu439=
XM_011545748.1:c.185A= XP_011544050.1:p.Glu62=
NM_144672.4:c.1316A= MANE Select NP_653273.3:p.Glu439=
XM_011545748.2:c.185A= XP_011544050.2:p.Glu62=
XR_002957775.1:n.411A=
NM_001161683.2:c.1079A= NP_001155155.1:p.Glu360=
NM_170664.3:c.344A= NP_733764.1:p.Glu115=