Canonical Allele Identifier: CA279403752

Gene: OTOA

Linked Data

• ClinVar Variation Id: 2805665
• ClinVar RCV Id: RCV003676878
• dbSNP Id: rs749451457
• gnomAD v4: 16-21710120-A-T
• MyVariant Identifiers: chr16:g.21721441A>T (hg19) ; chr16:g.21710120A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710120A>T , CM000678.2:g.21710120A>T	GRCh38
NC_000016.9:g.21721441A>T , CM000678.1:g.21721441A>T	GRCh37
NC_000016.8:g.21628942A>T	NCBI36
NG_012973.1:g.36607A>T
NG_012973.2:g.50988A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1320+17A>T	ENSP00000373610.3:n.1320+17A>T
ENST00000646100.2:c.1320+17A>T MANE Select	ENSP00000496564.2:n.1320+17A>T
ENST00000647277.1:c.*134+17A>T	ENSP00000495594.1:n.*134+17A>T
ENST00000286149.8:c.1362+17A>T	ENSP00000286149.4:n.1362+17A>T
ENST00000388956.8:c.1083+17A>T	ENSP00000373608.4:n.1083+17A>T
ENST00000388957.3:c.348+17A>T	ENSP00000373609.3:n.348+17A>T
ENST00000388958.7:c.1320+17A>T	ENSP00000373610.3:n.1320+17A>T
ENST00000563871.5:n.540+17A>T
NM_001161683.1:c.1083+17A>T	NP_001155155.1:n.1083+17A>T
NM_144672.3:c.1320+17A>T	NP_653273.3:n.1320+17A>T
NM_170664.2:c.348+17A>T	NP_733764.1:n.348+17A>T
XM_011545747.1:c.1320+17A>T	XP_011544049.1:n.1320+17A>T
XM_011545748.1:c.189+17A>T	XP_011544050.1:n.189+17A>T
NM_144672.4:c.1320+17A>T MANE Select	NP_653273.3:n.1320+17A>T
XM_011545748.2:c.189+17A>T	XP_011544050.2:n.189+17A>T
XR_002957775.1:n.415+17A>T
NM_001161683.2:c.1083+17A>T	NP_001155155.1:n.1083+17A>T
NM_170664.3:c.348+17A>T	NP_733764.1:n.348+17A>T