Canonical Allele Identifier: CA494117547

Gene: OTOA

Linked Data

• ClinVar Variation Id: 2787258
• ClinVar RCV Id: RCV003660656
• dbSNP Id: rs1411547382
• gnomAD v2: 16-21721307-A-G
• gnomAD v3: 16-21709986-A-G
• gnomAD v4: 16-21709986-A-G
• MyVariant Identifiers: chr16:g.21721307A>G (hg19) ; chr16:g.21709986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709986A>G , CM000678.2:g.21709986A>G	GRCh38
NC_000016.9:g.21721307A>G , CM000678.1:g.21721307A>G	GRCh37
NC_000016.8:g.21628808A>G	NCBI36
NG_012973.1:g.36473A>G
NG_012973.2:g.50854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1203A>G	ENSP00000373610.3:p.Gln401=
ENST00000646100.2:c.1203A>G MANE Select	ENSP00000496564.2:p.Gln401=
ENST00000647277.1:c.*17A>G	ENSP00000495594.1:n.*17A>G
ENST00000286149.8:c.1245A>G	ENSP00000286149.4:p.Gln415=
ENST00000388956.8:c.966A>G	ENSP00000373608.4:p.Gln322=
ENST00000388957.3:c.231A>G	ENSP00000373609.3:p.Gln77=
ENST00000388958.7:c.1203A>G	ENSP00000373610.3:p.Gln401=
ENST00000563871.5:n.423A>G
NM_001161683.1:c.966A>G	NP_001155155.1:p.Gln322=
NM_144672.3:c.1203A>G	NP_653273.3:p.Gln401=
NM_170664.2:c.231A>G	NP_733764.1:p.Gln77=
XM_011545747.1:c.1203A>G	XP_011544049.1:p.Gln401=
XM_011545748.1:c.72A>G	XP_011544050.1:p.Gln24=
NM_144672.4:c.1203A>G MANE Select	NP_653273.3:p.Gln401=
XM_011545748.2:c.72A>G	XP_011544050.2:p.Gln24=
XR_002957775.1:n.298A>G
NM_001161683.2:c.966A>G	NP_001155155.1:p.Gln322=
NM_170664.3:c.231A>G	NP_733764.1:p.Gln77=