Canonical Allele Identifier: CA349193
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 220536
ClinVar RCV Id: RCV000205028
dbSNP Id: rs864622571

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618198G>A , CM000667.2:g.132618198G>A GRCh38
NC_000005.9:g.131953890G>A , CM000667.1:g.131953890G>A GRCh37
NC_000005.8:g.131981789G>A NCBI36
NG_021151.1:g.66275G>A
NG_021151.2:g.66222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3293G>A MANE Select ENSP00000368100.4:p.Arg1098Gln
ENST00000638452.2:c.2996G>A ENSP00000492349.2:p.Arg999Gln
ENST00000638504.1:n.2901G>A
ENST00000638568.2:c.2996G>A ENSP00000491158.2:p.Arg999Gln
ENST00000639899.1:n.3812G>A
ENST00000640655.2:c.2996G>A ENSP00000491596.2:p.Arg999Gln
ENST00000651249.1:c.129G>A
ENST00000378823.7:c.3293G>A ENSP00000368100.4:p.Arg1098Gln
ENST00000533482.5:c.*2919G>A ENSP00000431225.1:n.*2919G>A
NM_005732.3:c.3293G>A NP_005723.2:p.Arg1098Gln
NM_005732.4:c.3293G>A MANE Select NP_005723.2:p.Arg1098Gln