Canonical Allele Identifier: CA345132
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48253
dbSNP Id: rs199766465

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26463969C>G , CM000664.2:g.26463969C>G GRCh38
NC_000002.11:g.26686837C>G , CM000664.1:g.26686837C>G GRCh37
NC_000002.10:g.26540341C>G NCBI36
NG_009937.1:g.99730G>C

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.5098G>C VV NP_001274418.1:p.Glu1700Gln
NM_004802.3:c.2797G>C VV NP_004793.2:p.Glu933Gln
NM_194248.2:c.5098G>C VV NP_919224.1:p.Glu1700Gln
NM_194322.2:c.3028G>C VV NP_919303.1:p.Glu1010Gln
NM_194323.2:c.2797G>C VV NP_919304.1:p.Glu933Gln
XM_005264644.2:n.5083G>C XP_005264701.1:p.Glu1695Gln
XM_011533185.1:n.5143G>C XP_011531487.1:p.Glu1715Gln
XM_017005338.1:n.5038G>C XP_016860827.1:p.Glu1680Gln
ENST00000272371.6:c.5098G>C ENSP00000272371.2:p.Glu1700Gln
ENST00000338581.10:c.2797G>C ENSP00000345137.6:p.Glu933Gln
ENST00000339598.7:c.2797G>C ENSP00000344521.3:p.Glu933Gln
ENST00000402415.7:c.3028G>C ENSP00000383906.3:p.Glu1010Gln
ENST00000403946.7:c.5098G>C ENSP00000385255.3:p.Glu1700Gln
ENST00000464574.1:n.847G>C