Canonical Allele Identifier: CA395062456

Gene: OTOA

Linked Data

• dbSNP Id: rs1567381052
• gnomAD v4: 16-21710000-C-A
• MyVariant Identifiers: chr16:g.21721321C>A (hg19) ; chr16:g.21710000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710000C>A , CM000678.2:g.21710000C>A	GRCh38
NC_000016.9:g.21721321C>A , CM000678.1:g.21721321C>A	GRCh37
NC_000016.8:g.21628822C>A	NCBI36
NG_012973.1:g.36487C>A
NG_012973.2:g.50868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1217C>A	ENSP00000373610.3:p.Ser406Tyr
ENST00000646100.2:c.1217C>A MANE Select	ENSP00000496564.2:p.Ser406Tyr
ENST00000647277.1:c.*31C>A	ENSP00000495594.1:n.*31C>A
ENST00000286149.8:c.1259C>A	ENSP00000286149.4:p.Ser420Tyr
ENST00000388956.8:c.980C>A	ENSP00000373608.4:p.Ser327Tyr
ENST00000388957.3:c.245C>A	ENSP00000373609.3:p.Ser82Tyr
ENST00000388958.7:c.1217C>A	ENSP00000373610.3:p.Ser406Tyr
ENST00000563871.5:n.437C>A
NM_001161683.1:c.980C>A	NP_001155155.1:p.Ser327Tyr
NM_144672.3:c.1217C>A	NP_653273.3:p.Ser406Tyr
NM_170664.2:c.245C>A	NP_733764.1:p.Ser82Tyr
XM_011545747.1:c.1217C>A	XP_011544049.1:p.Ser406Tyr
XM_011545748.1:c.86C>A	XP_011544050.1:p.Ser29Tyr
NM_144672.4:c.1217C>A MANE Select	NP_653273.3:p.Ser406Tyr
XM_011545748.2:c.86C>A	XP_011544050.2:p.Ser29Tyr
XR_002957775.1:n.312C>A
NM_001161683.2:c.980C>A	NP_001155155.1:p.Ser327Tyr
NM_170664.3:c.245C>A	NP_733764.1:p.Ser82Tyr