Canonical Allele Identifier: CA340527
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 6138
ClinVar RCV Id: RCV000006512
dbSNP Id: rs28937591
MyVariant Identifiers: chr2:g.26684624G>C (hg19) chr2:g.26461756G>C (hg38)
PubMed: PMID:12114484 PMID:20301429
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461756G>C , CM000664.2:g.26461756G>C GRCh38
NC_000002.11:g.26684624G>C , CM000664.1:g.26684624G>C GRCh37
NC_000002.10:g.26538128G>C NCBI36
NG_009937.1:g.101943C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5473C>G MANE Select ENSP00000272371.2:p.Pro1825Ala
ENST00000339598.8:c.3172C>G MANE Plus Clinical ENSP00000344521.3:p.Pro1058Ala
ENST00000402415.8:c.3232C>G ENSP00000383906.4:p.Pro1078Ala
ENST00000272371.6:c.5473C>G ENSP00000272371.2:p.Pro1825Ala
ENST00000338581.10:c.3172C>G ENSP00000345137.6:p.Pro1058Ala
ENST00000339598.7:c.3172C>G ENSP00000344521.3:p.Pro1058Ala
ENST00000402415.7:c.3403C>G ENSP00000383906.3:p.Pro1135Ala
ENST00000403946.7:c.5473C>G ENSP00000385255.3:p.Pro1825Ala
NM_001287489.1:c.5473C>G NP_001274418.1:p.Pro1825Ala
NM_004802.3:c.3172C>G NP_004793.2:p.Pro1058Ala
NM_194248.2:c.5473C>G NP_919224.1:p.Pro1825Ala
NM_194322.2:c.3403C>G NP_919303.1:p.Pro1135Ala
NM_194323.2:c.3172C>G NP_919304.1:p.Pro1058Ala
XM_005264644.2:c.5458C>G XP_005264701.1:p.Pro1820Ala
XM_011533185.1:c.5518C>G XP_011531487.1:p.Pro1840Ala
XM_017005338.1:c.5413C>G XP_016860827.1:p.Pro1805Ala
NM_001287489.2:c.5473C>G NP_001274418.1:p.Pro1825Ala
NM_004802.4:c.3172C>G NP_004793.2:p.Pro1058Ala
NM_194248.3:c.5473C>G MANE Select NP_919224.1:p.Pro1825Ala
NM_194322.3:c.3403C>G NP_919303.1:p.Pro1135Ala
NM_194323.3:c.3172C>G MANE Plus Clinical NP_919304.1:p.Pro1058Ala
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