Canonical Allele Identifier: CA395057171
Community Standard Title: NM_144672.4(OTOA):c.731A>T (p.Asn244Ile)
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21691679A>T , CM000678.2:g.21691679A>T GRCh38
NC_000016.9:g.21703000A>T , CM000678.1:g.21703000A>T GRCh37
NC_000016.8:g.21610501A>T NCBI36
NG_012973.1:g.18166A>T
NG_012973.2:g.32547A>T

Transcript Alleles

HGVS Amino-acid Change
NM_144672.4:c.731A>T MANE Select NP_653273.3:p.Asn244Ile
ENST00000646100.2:c.731A>T MANE Select ENSP00000496564.2:p.Asn244Ile
NM_001161683.1:c.494A>T NP_001155155.1:p.Asn165Ile
NM_001161683.2:c.494A>T NP_001155155.1:p.Asn165Ile
NM_144672.3:c.731A>T NP_653273.3:p.Asn244Ile
ENST00000286149.8:c.731A>T ENSP00000286149.4:p.Asn244Ile
ENST00000388956.8:c.494A>T ENSP00000373608.4:p.Asn165Ile
ENST00000388958.7:c.731A>T ENSP00000373610.3:p.Asn244Ile
ENST00000388958.8:c.731A>T ENSP00000373610.3:p.Asn244Ile
ENST00000647277.1:c.731A>T ENSP00000495594.1:p.Asn244Ile
XM_011545747.1:c.731A>T XP_011544049.1:p.Asn244Ile