Canonical Allele Identifier: CA7952581

Gene: OTOA

Linked Data

• ClinVar Variation Id: 2908125
• ClinVar RCV Id: RCV003729618
• dbSNP Id: rs781412998
• ExAC: 16:21721406 A / G
• gnomAD v2: 16-21721406-A-G
• gnomAD v4: 16-21710085-A-G
• MyVariant Identifiers: chr16:g.21721406A>G (hg19) ; chr16:g.21710085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710085A>G , CM000678.2:g.21710085A>G	GRCh38
NC_000016.9:g.21721406A>G , CM000678.1:g.21721406A>G	GRCh37
NC_000016.8:g.21628907A>G	NCBI36
NG_012973.1:g.36572A>G
NG_012973.2:g.50953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1302A>G	ENSP00000373610.3:p.Lys434=
ENST00000646100.2:c.1302A>G MANE Select	ENSP00000496564.2:p.Lys434=
ENST00000647277.1:c.*116A>G	ENSP00000495594.1:n.*116A>G
ENST00000286149.8:c.1344A>G	ENSP00000286149.4:p.Lys448=
ENST00000388956.8:c.1065A>G	ENSP00000373608.4:p.Lys355=
ENST00000388957.3:c.330A>G	ENSP00000373609.3:p.Lys110=
ENST00000388958.7:c.1302A>G	ENSP00000373610.3:p.Lys434=
ENST00000563871.5:n.522A>G
NM_001161683.1:c.1065A>G	NP_001155155.1:p.Lys355=
NM_144672.3:c.1302A>G	NP_653273.3:p.Lys434=
NM_170664.2:c.330A>G	NP_733764.1:p.Lys110=
XM_011545747.1:c.1302A>G	XP_011544049.1:p.Lys434=
XM_011545748.1:c.171A>G	XP_011544050.1:p.Lys57=
NM_144672.4:c.1302A>G MANE Select	NP_653273.3:p.Lys434=
XM_011545748.2:c.171A>G	XP_011544050.2:p.Lys57=
XR_002957775.1:n.397A>G
NM_001161683.2:c.1065A>G	NP_001155155.1:p.Lys355=
NM_170664.3:c.330A>G	NP_733764.1:p.Lys110=