Canonical Allele Identifier: CA2212563486
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709998C= , CM000678.2:g.21709998C= GRCh38
NC_000016.9:g.21721319C= , CM000678.1:g.21721319C= GRCh37
NC_000016.8:g.21628820C= NCBI36
NG_012973.1:g.36485C=
NG_012973.2:g.50866C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1215C= ENSP00000373610.3:p.Leu405=
ENST00000646100.2:c.1215C= MANE Select ENSP00000496564.2:p.Leu405=
ENST00000647277.1:c.*29C= ENSP00000495594.1:n.*29C=
ENST00000286149.8:c.1257C= ENSP00000286149.4:p.Leu419=
ENST00000388956.8:c.978C= ENSP00000373608.4:p.Leu326=
ENST00000388957.3:c.243C= ENSP00000373609.3:p.Leu81=
ENST00000388958.7:c.1215C= ENSP00000373610.3:p.Leu405=
ENST00000563871.5:n.435C=
NM_001161683.1:c.978C= NP_001155155.1:p.Leu326=
NM_144672.3:c.1215C= NP_653273.3:p.Leu405=
NM_170664.2:c.243C= NP_733764.1:p.Leu81=
XM_011545747.1:c.1215C= XP_011544049.1:p.Leu405=
XM_011545748.1:c.84C= XP_011544050.1:p.Leu28=
NM_144672.4:c.1215C= MANE Select NP_653273.3:p.Leu405=
XM_011545748.2:c.84C= XP_011544050.2:p.Leu28=
XR_002957775.1:n.310C=
NM_001161683.2:c.978C= NP_001155155.1:p.Leu326=
NM_170664.3:c.243C= NP_733764.1:p.Leu81=