Canonical Allele Identifier: CA345104
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65789
ClinVar RCV Id: RCV000056028
dbSNP Id: rs397515592

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477506G>T , CM000664.2:g.26477506G>T GRCh38
NC_000002.11:g.26700374G>T , CM000664.1:g.26700374G>T GRCh37
NC_000002.10:g.26553878G>T NCBI36
NG_009937.1:g.86193C>A

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.2316C>A VV NP_001274418.1:p.Cys772Ter
NM_004802.3:c.75C>A VV NP_004793.2:p.Cys25Ter
NM_194248.2:c.2316C>A VV NP_919224.1:p.Cys772Ter
NM_194322.2:c.246C>A VV NP_919303.1:p.Cys82Ter
NM_194323.2:c.75C>A VV NP_919304.1:p.Cys25Ter
XM_005264644.2:n.2361C>A XP_005264701.1:p.Cys787Ter
XM_011533185.1:n.2361C>A XP_011531487.1:p.Cys787Ter
XM_017005338.1:n.2316C>A XP_016860827.1:p.Cys772Ter
ENST00000272371.6:c.2316C>A ENSP00000272371.2:p.Cys772Ter
ENST00000338581.10:c.75C>A ENSP00000345137.6:p.Cys25Ter
ENST00000339598.7:c.75C>A ENSP00000344521.3:p.Cys25Ter
ENST00000402415.7:c.246C>A ENSP00000383906.3:p.Cys82Ter
ENST00000403946.7:c.2316C>A ENSP00000385255.3:p.Cys772Ter