Canonical Allele Identifier: CA395065400
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21722979G>C , CM000678.2:g.21722979G>C GRCh38
NC_000016.9:g.21734300G>C , CM000678.1:g.21734300G>C GRCh37
NC_000016.8:g.21641801G>C NCBI36
NG_012973.1:g.49466G>C
NG_012973.2:g.63847G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.1880+1G>C ENSP00000373610.3:n.1880+1G>C
ENST00000646100.2:c.1880+1G>C MANE Select ENSP00000496564.2:n.1880+1G>C
ENST00000647277.1:c.*694+1G>C ENSP00000495594.1:n.*694+1G>C
ENST00000286149.8:c.1922+1G>C ENSP00000286149.4:n.1922+1G>C
ENST00000388956.8:c.1643+1G>C ENSP00000373608.4:n.1643+1G>C
ENST00000388957.3:c.908+1G>C ENSP00000373609.3:n.908+1G>C
ENST00000388958.7:c.1880+1G>C ENSP00000373610.3:n.1880+1G>C
ENST00000563871.5:n.1295+1G>C
NM_001161683.1:c.1643+1G>C NP_001155155.1:n.1643+1G>C
NM_144672.3:c.1880+1G>C NP_653273.3:n.1880+1G>C
NM_170664.2:c.908+1G>C NP_733764.1:n.908+1G>C
XM_011545747.1:c.1880+1G>C XP_011544049.1:n.1880+1G>C
XM_011545748.1:c.749+1G>C XP_011544050.1:n.749+1G>C
NM_144672.4:c.1880+1G>C MANE Select NP_653273.3:n.1880+1G>C
XM_011545748.2:c.749+1G>C XP_011544050.2:n.749+1G>C
XM_017022951.1:c.146+1G>C XP_016878440.1:n.146+1G>C
XR_002957775.1:n.975+1G>C
NM_001161683.2:c.1643+1G>C NP_001155155.1:n.1643+1G>C
NM_170664.3:c.908+1G>C NP_733764.1:n.908+1G>C