Canonical Allele Identifier: CA279403750

Gene: OTOA

Linked Data

• ClinVar Variation Id: 2969590
• ClinVar RCV Id: RCV003821724
• dbSNP Id: rs780322156
• gnomAD v2: 16-21721434-A-G
• gnomAD v3: 16-21710113-A-G
• gnomAD v4: 16-21710113-A-G
• MyVariant Identifiers: chr16:g.21721434A>G (hg19) ; chr16:g.21710113A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710113A>G , CM000678.2:g.21710113A>G	GRCh38
NC_000016.9:g.21721434A>G , CM000678.1:g.21721434A>G	GRCh37
NC_000016.8:g.21628935A>G	NCBI36
NG_012973.1:g.36600A>G
NG_012973.2:g.50981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1320+10A>G	ENSP00000373610.3:n.1320+10A>G
ENST00000646100.2:c.1320+10A>G MANE Select	ENSP00000496564.2:n.1320+10A>G
ENST00000647277.1:c.*134+10A>G	ENSP00000495594.1:n.*134+10A>G
ENST00000286149.8:c.1362+10A>G	ENSP00000286149.4:n.1362+10A>G
ENST00000388956.8:c.1083+10A>G	ENSP00000373608.4:n.1083+10A>G
ENST00000388957.3:c.348+10A>G	ENSP00000373609.3:n.348+10A>G
ENST00000388958.7:c.1320+10A>G	ENSP00000373610.3:n.1320+10A>G
ENST00000563871.5:n.540+10A>G
NM_001161683.1:c.1083+10A>G	NP_001155155.1:n.1083+10A>G
NM_144672.3:c.1320+10A>G	NP_653273.3:n.1320+10A>G
NM_170664.2:c.348+10A>G	NP_733764.1:n.348+10A>G
XM_011545747.1:c.1320+10A>G	XP_011544049.1:n.1320+10A>G
XM_011545748.1:c.189+10A>G	XP_011544050.1:n.189+10A>G
NM_144672.4:c.1320+10A>G MANE Select	NP_653273.3:n.1320+10A>G
XM_011545748.2:c.189+10A>G	XP_011544050.2:n.189+10A>G
XR_002957775.1:n.415+10A>G
NM_001161683.2:c.1083+10A>G	NP_001155155.1:n.1083+10A>G
NM_170664.3:c.348+10A>G	NP_733764.1:n.348+10A>G