Canonical Allele Identifier: CA395062438

Gene: OTOA

Linked Data

• ClinVar Variation Id: 1485323
• ClinVar RCV Id: RCV002008576
• dbSNP Id: rs1313592548
• MyVariant Identifiers: chr16:g.21739705C>G (hg19) ; chr16:g.21728384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21728384C>G , CM000678.2:g.21728384C>G	GRCh38
NC_000016.9:g.21739705C>G , CM000678.1:g.21739705C>G	GRCh37
NC_000016.8:g.21647206C>G	NCBI36
NG_012973.1:g.54871C>G
NG_012973.2:g.69252C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.2160C>G	ENSP00000373610.3:p.Asn720Lys
ENST00000646100.2:c.2160C>G MANE Select	ENSP00000496564.2:p.Asn720Lys
ENST00000647277.1:c.*974C>G	ENSP00000495594.1:n.*974C>G
ENST00000286149.8:c.2202C>G	ENSP00000286149.4:p.Asn734Lys
ENST00000388956.8:c.1923C>G	ENSP00000373608.4:p.Asn641Lys
ENST00000388957.3:c.1188C>G	ENSP00000373609.3:p.Asn396Lys
ENST00000388958.7:c.2160C>G	ENSP00000373610.3:p.Asn720Lys
ENST00000563871.5:n.1623C>G
NM_001161683.1:c.1923C>G	NP_001155155.1:p.Asn641Lys
NM_144672.3:c.2160C>G	NP_653273.3:p.Asn720Lys
NM_170664.2:c.1188C>G	NP_733764.1:p.Asn396Lys
XM_011545747.1:c.2160C>G	XP_011544049.1:p.Asn720Lys
XM_011545748.1:c.1029C>G	XP_011544050.1:p.Asn343Lys
NM_144672.4:c.2160C>G MANE Select	NP_653273.3:p.Asn720Lys
XM_011545748.2:c.1029C>G	XP_011544050.2:p.Asn343Lys
XM_017022951.1:c.426C>G	XP_016878440.1:p.Asn142Lys
XR_002957775.1:n.1255C>G
NM_001161683.2:c.1923C>G	NP_001155155.1:p.Asn641Lys
NM_170664.3:c.1188C>G	NP_733764.1:p.Asn396Lys