Canonical Allele Identifier: CA395062665
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710056A>T , CM000678.2:g.21710056A>T GRCh38
NC_000016.9:g.21721377A>T , CM000678.1:g.21721377A>T GRCh37
NC_000016.8:g.21628878A>T NCBI36
NG_012973.1:g.36543A>T
NG_012973.2:g.50924A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1273A>T ENSP00000373610.3:p.Lys425Ter
ENST00000646100.2:c.1273A>T MANE Select ENSP00000496564.2:p.Lys425Ter
ENST00000647277.1:c.*87A>T ENSP00000495594.1:n.*87A>T
ENST00000286149.8:c.1315A>T ENSP00000286149.4:p.Lys439Ter
ENST00000388956.8:c.1036A>T ENSP00000373608.4:p.Lys346Ter
ENST00000388957.3:c.301A>T ENSP00000373609.3:p.Lys101Ter
ENST00000388958.7:c.1273A>T ENSP00000373610.3:p.Lys425Ter
ENST00000563871.5:n.493A>T
NM_001161683.1:c.1036A>T NP_001155155.1:p.Lys346Ter
NM_144672.3:c.1273A>T NP_653273.3:p.Lys425Ter
NM_170664.2:c.301A>T NP_733764.1:p.Lys101Ter
XM_011545747.1:c.1273A>T XP_011544049.1:p.Lys425Ter
XM_011545748.1:c.142A>T XP_011544050.1:p.Lys48Ter
NM_144672.4:c.1273A>T MANE Select NP_653273.3:p.Lys425Ter
XM_011545748.2:c.142A>T XP_011544050.2:p.Lys48Ter
XR_002957775.1:n.368A>T
NM_001161683.2:c.1036A>T NP_001155155.1:p.Lys346Ter
NM_170664.3:c.301A>T NP_733764.1:p.Lys101Ter