Canonical Allele Identifier: CA395063766

Gene: OTOA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21716952G>A , CM000678.2:g.21716952G>A	GRCh38
NC_000016.9:g.21728273G>A , CM000678.1:g.21728273G>A	GRCh37
NC_000016.8:g.21635774G>A	NCBI36
NG_012973.1:g.43439G>A
NG_012973.2:g.57820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1534G>A	ENSP00000373610.3:p.Gly512Arg
ENST00000646100.2:c.1534G>A MANE Select	ENSP00000496564.2:p.Gly512Arg
ENST00000647277.1:c.*348G>A	ENSP00000495594.1:n.*348G>A
ENST00000286149.8:c.1576G>A	ENSP00000286149.4:p.Gly526Arg
ENST00000388956.8:c.1297G>A	ENSP00000373608.4:p.Gly433Arg
ENST00000388957.3:c.562G>A	ENSP00000373609.3:p.Gly188Arg
ENST00000388958.7:c.1534G>A	ENSP00000373610.3:p.Gly512Arg
ENST00000563871.5:n.754G>A
NM_001161683.1:c.1297G>A	NP_001155155.1:p.Gly433Arg
NM_144672.3:c.1534G>A	NP_653273.3:p.Gly512Arg
NM_170664.2:c.562G>A	NP_733764.1:p.Gly188Arg
XM_011545747.1:c.1534G>A	XP_011544049.1:p.Gly512Arg
XM_011545748.1:c.403G>A	XP_011544050.1:p.Gly135Arg
NM_144672.4:c.1534G>A MANE Select	NP_653273.3:p.Gly512Arg
XM_011545748.2:c.403G>A	XP_011544050.2:p.Gly135Arg
XR_002957775.1:n.629G>A
NM_001161683.2:c.1297G>A	NP_001155155.1:p.Gly433Arg
NM_170664.3:c.562G>A	NP_733764.1:p.Gly188Arg