Canonical Allele Identifier: CA395062057
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728280G>T , CM000678.2:g.21728280G>T GRCh38
NC_000016.9:g.21739601G>T , CM000678.1:g.21739601G>T GRCh37
NC_000016.8:g.21647102G>T NCBI36
NG_012973.1:g.54767G>T
NG_012973.2:g.69148G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.2056G>T ENSP00000373610.3:p.Gly686Trp
ENST00000646100.2:c.2056G>T MANE Select ENSP00000496564.2:p.Gly686Trp
ENST00000647277.1:c.*870G>T ENSP00000495594.1:n.*870G>T
ENST00000286149.8:c.2098G>T ENSP00000286149.4:p.Gly700Trp
ENST00000388956.8:c.1819G>T ENSP00000373608.4:p.Gly607Trp
ENST00000388957.3:c.1084G>T ENSP00000373609.3:p.Gly362Trp
ENST00000388958.7:c.2056G>T ENSP00000373610.3:p.Gly686Trp
ENST00000563871.5:n.1519G>T
NM_001161683.1:c.1819G>T NP_001155155.1:p.Gly607Trp
NM_144672.3:c.2056G>T NP_653273.3:p.Gly686Trp
NM_170664.2:c.1084G>T NP_733764.1:p.Gly362Trp
XM_011545747.1:c.2056G>T XP_011544049.1:p.Gly686Trp
XM_011545748.1:c.925G>T XP_011544050.1:p.Gly309Trp
NM_144672.4:c.2056G>T MANE Select NP_653273.3:p.Gly686Trp
XM_011545748.2:c.925G>T XP_011544050.2:p.Gly309Trp
XM_017022951.1:c.322G>T XP_016878440.1:p.Gly108Trp
XR_002957775.1:n.1151G>T
NM_001161683.2:c.1819G>T NP_001155155.1:p.Gly607Trp
NM_170664.3:c.1084G>T NP_733764.1:p.Gly362Trp