Canonical Allele Identifier: CA1564264
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2976464
ClinVar RCV Id: RCV003836614
dbSNP Id: rs755519159
ExAC: 2:26705389 G / T
gnomAD v2: 2-26705389-G-T
gnomAD v4: 2-26482521-G-T
MyVariant Identifiers: chr2:g.26705389G>T (hg19) chr2:g.26482521G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482521G>T , CM000664.2:g.26482521G>T GRCh38
NC_000002.11:g.26705389G>T , CM000664.1:g.26705389G>T GRCh37
NC_000002.10:g.26558893G>T NCBI36
NG_009937.1:g.81178C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1464C>A MANE Select ENSP00000272371.2:p.Phe488Leu
ENST00000272371.6:c.1464C>A ENSP00000272371.2:p.Phe488Leu
ENST00000403946.7:c.1464C>A ENSP00000385255.3:p.Phe488Leu
NM_001287489.1:c.1464C>A NP_001274418.1:p.Phe488Leu
NM_194248.2:c.1464C>A NP_919224.1:p.Phe488Leu
XM_005264644.2:c.1509C>A XP_005264701.1:p.Phe503Leu
XM_011533185.1:c.1509C>A XP_011531487.1:p.Phe503Leu
XM_017005338.1:c.1464C>A XP_016860827.1:p.Phe488Leu
NM_001287489.2:c.1464C>A NP_001274418.1:p.Phe488Leu
NM_194248.3:c.1464C>A MANE Select NP_919224.1:p.Phe488Leu
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