Canonical Allele Identifier: CA117970
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6141
ClinVar RCV Id: RCV000006515
dbSNP Id: rs121908598

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26458074G>C , CM000664.2:g.26458074G>C GRCh38
NC_000002.11:g.26680942G>C , CM000664.1:g.26680942G>C GRCh37
NC_000002.10:g.26534446G>C NCBI36
NG_009937.1:g.105625C>G
NG_042824.1:g.61163G>C

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.5960C>G VV NP_001274418.1:p.Pro1987Arg
NM_004802.3:c.*164C>G VV NP_004793.2:p.=
NM_194248.2:c.*164C>G VV NP_919224.1:p.=
NM_194322.2:c.*164C>G VV NP_919303.1:p.=
NM_194323.2:c.3659C>G VV NP_919304.1:p.Pro1220Arg
XM_005264644.2:n.5945C>G XP_005264701.1:p.Pro1982Arg
XM_011533185.1:n.6005C>G XP_011531487.1:p.Pro2002Arg
ENST00000272371.6:c.*164C>G ENSP00000272371.2:p.=
ENST00000338581.10:c.*164C>G ENSP00000345137.6:p.=
ENST00000339598.7:c.3659C>G ENSP00000344521.3:p.Pro1220Arg
ENST00000402415.7:c.*164C>G ENSP00000383906.3:p.=
ENST00000403946.7:c.5960C>G ENSP00000385255.3:p.Pro1987Arg