Canonical Allele Identifier: CA194418
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 186305
dbSNP Id: rs786202849

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132588766G>A , CM000667.2:g.132588766G>A GRCh38
NC_000005.9:g.131924458G>A , CM000667.1:g.131924458G>A GRCh37
NC_000005.8:g.131952357G>A NCBI36
NG_021151.1:g.36843G>A
NG_021151.2:g.36790G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1131G>A MANE Select ENSP00000368100.4:p.Gln377=
ENST00000638452.2:c.834G>A ENSP00000492349.2:p.Gln278=
ENST00000638504.1:n.817G>A
ENST00000638568.2:c.834G>A ENSP00000491158.2:p.Gln278=
ENST00000639899.1:n.1650G>A
ENST00000640655.2:c.834G>A ENSP00000491596.2:p.Gln278=
ENST00000651160.1:c.1131G>A ENSP00000498829.1:p.Gln377=
ENST00000651541.1:c.834G>A ENSP00000498795.1:p.Gln278=
ENST00000651658.1:n.1558G>A
ENST00000651723.1:c.*1214G>A ENSP00000498237.1:p.=
ENST00000652016.1:c.1131G>A ENSP00000498267.1:p.Gln377=
ENST00000652485.1:c.1131G>A ENSP00000498973.1:p.Gln377=
ENST00000378823.7:c.1131G>A ENSP00000368100.4:p.Gln377=
ENST00000423956.5:c.1131G>A ENSP00000390971.1:p.Gln377=
ENST00000453394.5:c.1131G>A ENSP00000400049.1:p.Gln377=
ENST00000487596.1:n.697G>A
ENST00000533482.5:c.*757G>A ENSP00000431225.1:p.=
NM_005732.3:c.1131G>A NP_005723.2:p.Gln377=
NM_005732.4:c.1131G>A MANE Select NP_005723.2:p.Gln377=