Canonical Allele Identifier: CA345093
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 65781
ClinVar RCV Id: RCV000056020
dbSNP Id: rs397515586
MyVariant Identifiers: chr2:g.26703739A>C (hg19) chr2:g.26480871A>C (hg38)
PubMed: PMID:19250381 PMID:20301429
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480871A>C , CM000664.2:g.26480871A>C GRCh38
NC_000002.11:g.26703739A>C , CM000664.1:g.26703739A>C GRCh37
NC_000002.10:g.26557243A>C NCBI36
NG_009937.1:g.82828T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1718T>G MANE Select ENSP00000272371.2:p.Leu573Arg
ENST00000272371.6:c.1718T>G ENSP00000272371.2:p.Leu573Arg
ENST00000403946.7:c.1718T>G ENSP00000385255.3:p.Leu573Arg
NM_001287489.1:c.1718T>G NP_001274418.1:p.Leu573Arg
NM_194248.2:c.1718T>G NP_919224.1:p.Leu573Arg
XM_005264644.2:c.1763T>G XP_005264701.1:p.Leu588Arg
XM_011533185.1:c.1763T>G XP_011531487.1:p.Leu588Arg
XM_017005338.1:c.1718T>G XP_016860827.1:p.Leu573Arg
NM_001287489.2:c.1718T>G NP_001274418.1:p.Leu573Arg
NM_194248.3:c.1718T>G MANE Select NP_919224.1:p.Leu573Arg
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