Canonical Allele Identifier: CA346138228
Gene: OTOF HGNC NCBI

Linked Data

COSMIC: COSM720702
MyVariant Identifiers: chr2:g.26712555G>C (hg19) chr2:g.26489687G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26489687G>C , CM000664.2:g.26489687G>C GRCh38
NC_000002.11:g.26712555G>C , CM000664.1:g.26712555G>C GRCh37
NC_000002.10:g.26566059G>C NCBI36
NG_009937.1:g.74012C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.951C>G MANE Select ENSP00000272371.2:p.Ile317Met
ENST00000272371.6:c.951C>G ENSP00000272371.2:p.Ile317Met
ENST00000403946.7:c.951C>G ENSP00000385255.3:p.Ile317Met
NM_001287489.1:c.951C>G NP_001274418.1:p.Ile317Met
NM_194248.2:c.951C>G NP_919224.1:p.Ile317Met
XM_005264644.2:c.996C>G XP_005264701.1:p.Ile332Met
XM_011533185.1:c.996C>G XP_011531487.1:p.Ile332Met
XM_017005338.1:c.951C>G XP_016860827.1:p.Ile317Met
NM_001287489.2:c.951C>G NP_001274418.1:p.Ile317Met
NM_194248.3:c.951C>G MANE Select NP_919224.1:p.Ile317Met
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