Canonical Allele Identifier: CA395062309

Gene: OTOA

Linked Data

• ClinVar Variation Id: 930083
• ClinVar RCV Id: RCV001195506
• dbSNP Id: rs1898305690
• MyVariant Identifiers: chr16:g.21721290G>A (hg19) ; chr16:g.21709969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709969G>A , CM000678.2:g.21709969G>A	GRCh38
NC_000016.9:g.21721290G>A , CM000678.1:g.21721290G>A	GRCh37
NC_000016.8:g.21628791G>A	NCBI36
NG_012973.1:g.36456G>A
NG_012973.2:g.50837G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.1186G>A	ENSP00000373610.3:p.Gly396Ser
ENST00000646100.2:c.1186G>A MANE Select	ENSP00000496564.2:p.Gly396Ser
ENST00000647277.1:c.1062G>A	ENSP00000495594.1:p.Ter354=
ENST00000286149.8:c.1228G>A	ENSP00000286149.4:p.Gly410Ser
ENST00000388956.8:c.949G>A	ENSP00000373608.4:p.Gly317Ser
ENST00000388957.3:c.214G>A	ENSP00000373609.3:p.Gly72Ser
ENST00000388958.7:c.1186G>A	ENSP00000373610.3:p.Gly396Ser
ENST00000563871.5:n.406G>A
NM_001161683.1:c.949G>A	NP_001155155.1:p.Gly317Ser
NM_144672.3:c.1186G>A	NP_653273.3:p.Gly396Ser
NM_170664.2:c.214G>A	NP_733764.1:p.Gly72Ser
XM_011545747.1:c.1186G>A	XP_011544049.1:p.Gly396Ser
XM_011545748.1:c.55G>A	XP_011544050.1:p.Gly19Ser
NM_144672.4:c.1186G>A MANE Select	NP_653273.3:p.Gly396Ser
XM_011545748.2:c.55G>A	XP_011544050.2:p.Gly19Ser
XR_002957775.1:n.281G>A
NM_001161683.2:c.949G>A	NP_001155155.1:p.Gly317Ser
NM_170664.3:c.214G>A	NP_733764.1:p.Gly72Ser