Canonical Allele Identifier: CA177532

Gene: OTOA

Linked Data

• ClinVar Variation Id: 164825
• ClinVar RCV Id: RCV000151586
• dbSNP Id: rs727503351
• gnomAD v4: 16-21722978-C-G
• MyVariant Identifiers: chr16:g.21734299C>G (hg19) ; chr16:g.21722978C>G (hg38)
• PubMed: PMID:23173898

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21722978C>G , CM000678.2:g.21722978C>G	GRCh38
NC_000016.9:g.21734299C>G , CM000678.1:g.21734299C>G	GRCh37
NC_000016.8:g.21641800C>G	NCBI36
NG_012973.1:g.49465C>G
NG_012973.2:g.63846C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.1880C>G	ENSP00000373610.3:p.Pro627Arg
ENST00000646100.2:c.1880C>G MANE Select	ENSP00000496564.2:p.Pro627Arg
ENST00000647277.1:c.*694C>G	ENSP00000495594.1:n.*694C>G
ENST00000286149.8:c.1922C>G	ENSP00000286149.4:p.Pro641Arg
ENST00000388956.8:c.1643C>G	ENSP00000373608.4:p.Pro548Arg
ENST00000388957.3:c.908C>G	ENSP00000373609.3:p.Pro303Arg
ENST00000388958.7:c.1880C>G	ENSP00000373610.3:p.Pro627Arg
ENST00000563871.5:n.1295C>G
NM_001161683.1:c.1643C>G	NP_001155155.1:p.Pro548Arg
NM_144672.3:c.1880C>G	NP_653273.3:p.Pro627Arg
NM_170664.2:c.908C>G	NP_733764.1:p.Pro303Arg
XM_011545747.1:c.1880C>G	XP_011544049.1:p.Pro627Arg
XM_011545748.1:c.749C>G	XP_011544050.1:p.Pro250Arg
NM_144672.4:c.1880C>G MANE Select	NP_653273.3:p.Pro627Arg
XM_011545748.2:c.749C>G	XP_011544050.2:p.Pro250Arg
XM_017022951.1:c.146C>G	XP_016878440.1:p.Pro49Arg
XR_002957775.1:n.975C>G
NM_001161683.2:c.1643C>G	NP_001155155.1:p.Pro548Arg
NM_170664.3:c.908C>G	NP_733764.1:p.Pro303Arg