Canonical Allele Identifier: CA345142
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65813
dbSNP Id: rs368790049

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460204G>A , CM000664.2:g.26460204G>A GRCh38
NC_000002.11:g.26683072G>A , CM000664.1:g.26683072G>A GRCh37
NC_000002.10:g.26536576G>A NCBI36
NG_009937.1:g.103495C>T

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.5813+443C>T VV NP_001274418.1:p.=
NM_004802.3:c.3514C>T VV NP_004793.2:p.Arg1172Trp
NM_194248.2:c.5815C>T VV NP_919224.1:p.Arg1939Trp
NM_194322.2:c.3745C>T VV NP_919303.1:p.Arg1249Trp
NM_194323.2:c.3512+443C>T VV NP_919304.1:p.=
XM_005264644.2:n.5798+443C>T XP_005264701.1:p.=
XM_011533185.1:n.5858+443C>T XP_011531487.1:p.=
XM_017005338.1:n.5755C>T XP_016860827.1:p.Arg1919Trp
ENST00000272371.6:c.5815C>T ENSP00000272371.2:p.Arg1939Trp
ENST00000338581.10:c.3514C>T ENSP00000345137.6:p.Arg1172Trp
ENST00000339598.7:c.3512+443C>T ENSP00000344521.3:p.=
ENST00000402415.7:c.3745C>T ENSP00000383906.3:p.Arg1249Trp
ENST00000403946.7:c.5813+443C>T ENSP00000385255.3:p.=