Canonical Allele Identifier: CA395062769
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710101A>G , CM000678.2:g.21710101A>G GRCh38
NC_000016.9:g.21721422A>G , CM000678.1:g.21721422A>G GRCh37
NC_000016.8:g.21628923A>G NCBI36
NG_012973.1:g.36588A>G
NG_012973.2:g.50969A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1318A>G ENSP00000373610.3:p.Lys440Glu
ENST00000646100.2:c.1318A>G MANE Select ENSP00000496564.2:p.Lys440Glu
ENST00000647277.1:c.*132A>G ENSP00000495594.1:n.*132A>G
ENST00000286149.8:c.1360A>G ENSP00000286149.4:p.Lys454Glu
ENST00000388956.8:c.1081A>G ENSP00000373608.4:p.Lys361Glu
ENST00000388957.3:c.346A>G ENSP00000373609.3:p.Lys116Glu
ENST00000388958.7:c.1318A>G ENSP00000373610.3:p.Lys440Glu
ENST00000563871.5:n.538A>G
NM_001161683.1:c.1081A>G NP_001155155.1:p.Lys361Glu
NM_144672.3:c.1318A>G NP_653273.3:p.Lys440Glu
NM_170664.2:c.346A>G NP_733764.1:p.Lys116Glu
XM_011545747.1:c.1318A>G XP_011544049.1:p.Lys440Glu
XM_011545748.1:c.187A>G XP_011544050.1:p.Lys63Glu
NM_144672.4:c.1318A>G MANE Select NP_653273.3:p.Lys440Glu
XM_011545748.2:c.187A>G XP_011544050.2:p.Lys63Glu
XR_002957775.1:n.413A>G
NM_001161683.2:c.1081A>G NP_001155155.1:p.Lys361Glu
NM_170664.3:c.346A>G NP_733764.1:p.Lys116Glu