Canonical Allele Identifier: CA395062478

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710005-G-C
• MyVariant Identifiers: chr16:g.21721326G>C (hg19) ; chr16:g.21710005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710005G>C , CM000678.2:g.21710005G>C	GRCh38
NC_000016.9:g.21721326G>C , CM000678.1:g.21721326G>C	GRCh37
NC_000016.8:g.21628827G>C	NCBI36
NG_012973.1:g.36492G>C
NG_012973.2:g.50873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1222G>C	ENSP00000373610.3:p.Glu408Gln
ENST00000646100.2:c.1222G>C MANE Select	ENSP00000496564.2:p.Glu408Gln
ENST00000647277.1:c.*36G>C	ENSP00000495594.1:n.*36G>C
ENST00000286149.8:c.1264G>C	ENSP00000286149.4:p.Glu422Gln
ENST00000388956.8:c.985G>C	ENSP00000373608.4:p.Glu329Gln
ENST00000388957.3:c.250G>C	ENSP00000373609.3:p.Glu84Gln
ENST00000388958.7:c.1222G>C	ENSP00000373610.3:p.Glu408Gln
ENST00000563871.5:n.442G>C
NM_001161683.1:c.985G>C	NP_001155155.1:p.Glu329Gln
NM_144672.3:c.1222G>C	NP_653273.3:p.Glu408Gln
NM_170664.2:c.250G>C	NP_733764.1:p.Glu84Gln
XM_011545747.1:c.1222G>C	XP_011544049.1:p.Glu408Gln
XM_011545748.1:c.91G>C	XP_011544050.1:p.Glu31Gln
NM_144672.4:c.1222G>C MANE Select	NP_653273.3:p.Glu408Gln
XM_011545748.2:c.91G>C	XP_011544050.2:p.Glu31Gln
XR_002957775.1:n.317G>C
NM_001161683.2:c.985G>C	NP_001155155.1:p.Glu329Gln
NM_170664.3:c.250G>C	NP_733764.1:p.Glu84Gln