Canonical Allele Identifier: CA395062624
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710037C>A , CM000678.2:g.21710037C>A GRCh38
NC_000016.9:g.21721358C>A , CM000678.1:g.21721358C>A GRCh37
NC_000016.8:g.21628859C>A NCBI36
NG_012973.1:g.36524C>A
NG_012973.2:g.50905C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1254C>A ENSP00000373610.3:p.Asn418Lys
ENST00000646100.2:c.1254C>A MANE Select ENSP00000496564.2:p.Asn418Lys
ENST00000647277.1:c.*68C>A ENSP00000495594.1:n.*68C>A
ENST00000286149.8:c.1296C>A ENSP00000286149.4:p.Asn432Lys
ENST00000388956.8:c.1017C>A ENSP00000373608.4:p.Asn339Lys
ENST00000388957.3:c.282C>A ENSP00000373609.3:p.Asn94Lys
ENST00000388958.7:c.1254C>A ENSP00000373610.3:p.Asn418Lys
ENST00000563871.5:n.474C>A
NM_001161683.1:c.1017C>A NP_001155155.1:p.Asn339Lys
NM_144672.3:c.1254C>A NP_653273.3:p.Asn418Lys
NM_170664.2:c.282C>A NP_733764.1:p.Asn94Lys
XM_011545747.1:c.1254C>A XP_011544049.1:p.Asn418Lys
XM_011545748.1:c.123C>A XP_011544050.1:p.Asn41Lys
NM_144672.4:c.1254C>A MANE Select NP_653273.3:p.Asn418Lys
XM_011545748.2:c.123C>A XP_011544050.2:p.Asn41Lys
XR_002957775.1:n.349C>A
NM_001161683.2:c.1017C>A NP_001155155.1:p.Asn339Lys
NM_170664.3:c.282C>A NP_733764.1:p.Asn94Lys