Canonical Allele Identifier: CA395062584

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710027-C-A
• MyVariant Identifiers: chr16:g.21721348C>A (hg19) ; chr16:g.21710027C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710027C>A , CM000678.2:g.21710027C>A	GRCh38
NC_000016.9:g.21721348C>A , CM000678.1:g.21721348C>A	GRCh37
NC_000016.8:g.21628849C>A	NCBI36
NG_012973.1:g.36514C>A
NG_012973.2:g.50895C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1244C>A	ENSP00000373610.3:p.Ser415Tyr
ENST00000646100.2:c.1244C>A MANE Select	ENSP00000496564.2:p.Ser415Tyr
ENST00000647277.1:c.*58C>A	ENSP00000495594.1:n.*58C>A
ENST00000286149.8:c.1286C>A	ENSP00000286149.4:p.Ser429Tyr
ENST00000388956.8:c.1007C>A	ENSP00000373608.4:p.Ser336Tyr
ENST00000388957.3:c.272C>A	ENSP00000373609.3:p.Ser91Tyr
ENST00000388958.7:c.1244C>A	ENSP00000373610.3:p.Ser415Tyr
ENST00000563871.5:n.464C>A
NM_001161683.1:c.1007C>A	NP_001155155.1:p.Ser336Tyr
NM_144672.3:c.1244C>A	NP_653273.3:p.Ser415Tyr
NM_170664.2:c.272C>A	NP_733764.1:p.Ser91Tyr
XM_011545747.1:c.1244C>A	XP_011544049.1:p.Ser415Tyr
XM_011545748.1:c.113C>A	XP_011544050.1:p.Ser38Tyr
NM_144672.4:c.1244C>A MANE Select	NP_653273.3:p.Ser415Tyr
XM_011545748.2:c.113C>A	XP_011544050.2:p.Ser38Tyr
XR_002957775.1:n.339C>A
NM_001161683.2:c.1007C>A	NP_001155155.1:p.Ser336Tyr
NM_170664.3:c.272C>A	NP_733764.1:p.Ser91Tyr