Canonical Allele Identifier: CA395062068

Gene: OTOA

Linked Data

• dbSNP Id: rs753577013
• gnomAD v4: 16-21728284-A-C
• MyVariant Identifiers: chr16:g.21739605A>C (hg19) ; chr16:g.21728284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21728284A>C , CM000678.2:g.21728284A>C	GRCh38
NC_000016.9:g.21739605A>C , CM000678.1:g.21739605A>C	GRCh37
NC_000016.8:g.21647106A>C	NCBI36
NG_012973.1:g.54771A>C
NG_012973.2:g.69152A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.2060A>C	ENSP00000373610.3:p.Asn687Thr
ENST00000646100.2:c.2060A>C MANE Select	ENSP00000496564.2:p.Asn687Thr
ENST00000647277.1:c.*874A>C	ENSP00000495594.1:n.*874A>C
ENST00000286149.8:c.2102A>C	ENSP00000286149.4:p.Asn701Thr
ENST00000388956.8:c.1823A>C	ENSP00000373608.4:p.Asn608Thr
ENST00000388957.3:c.1088A>C	ENSP00000373609.3:p.Asn363Thr
ENST00000388958.7:c.2060A>C	ENSP00000373610.3:p.Asn687Thr
ENST00000563871.5:n.1523A>C
NM_001161683.1:c.1823A>C	NP_001155155.1:p.Asn608Thr
NM_144672.3:c.2060A>C	NP_653273.3:p.Asn687Thr
NM_170664.2:c.1088A>C	NP_733764.1:p.Asn363Thr
XM_011545747.1:c.2060A>C	XP_011544049.1:p.Asn687Thr
XM_011545748.1:c.929A>C	XP_011544050.1:p.Asn310Thr
NM_144672.4:c.2060A>C MANE Select	NP_653273.3:p.Asn687Thr
XM_011545748.2:c.929A>C	XP_011544050.2:p.Asn310Thr
XM_017022951.1:c.326A>C	XP_016878440.1:p.Asn109Thr
XR_002957775.1:n.1155A>C
NM_001161683.2:c.1823A>C	NP_001155155.1:p.Asn608Thr
NM_170664.3:c.1088A>C	NP_733764.1:p.Asn363Thr