Canonical Allele Identifier: CA494117552

Gene: OTOA

Linked Data

• ClinVar Variation Id: 2835163
• ClinVar RCV Id: RCV003687000
• MyVariant Identifiers: chr16:g.21721313A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709992A>G , CM000678.2:g.21709992A>G	GRCh38
NC_000016.9:g.21721313A>G , CM000678.1:g.21721313A>G	GRCh37
NC_000016.8:g.21628814A>G	NCBI36
NG_012973.1:g.36479A>G
NG_012973.2:g.50860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1209A>G	ENSP00000373610.3:p.Glu403=
ENST00000646100.2:c.1209A>G MANE Select	ENSP00000496564.2:p.Glu403=
ENST00000647277.1:c.*23A>G	ENSP00000495594.1:n.*23A>G
ENST00000286149.8:c.1251A>G	ENSP00000286149.4:p.Glu417=
ENST00000388956.8:c.972A>G	ENSP00000373608.4:p.Glu324=
ENST00000388957.3:c.237A>G	ENSP00000373609.3:p.Glu79=
ENST00000388958.7:c.1209A>G	ENSP00000373610.3:p.Glu403=
ENST00000563871.5:n.429A>G
NM_001161683.1:c.972A>G	NP_001155155.1:p.Glu324=
NM_144672.3:c.1209A>G	NP_653273.3:p.Glu403=
NM_170664.2:c.237A>G	NP_733764.1:p.Glu79=
XM_011545747.1:c.1209A>G	XP_011544049.1:p.Glu403=
XM_011545748.1:c.78A>G	XP_011544050.1:p.Glu26=
NM_144672.4:c.1209A>G MANE Select	NP_653273.3:p.Glu403=
XM_011545748.2:c.78A>G	XP_011544050.2:p.Glu26=
XR_002957775.1:n.304A>G
NM_001161683.2:c.972A>G	NP_001155155.1:p.Glu324=
NM_170664.3:c.237A>G	NP_733764.1:p.Glu79=