Canonical Allele Identifier: CA117821
Gene: RAD50 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.132618182C>T
GRCh37 chr5:g.131953874C>T
gnomAD v2:
5:131953874 C / T
gnomAD v3:
5:132618182 C / T
gnomAD v4:
chr5-132618182-C-T
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.0000099 (AFR)
ClinVar RCV:
RCV000006230
RCV000575384
ClinVar Variation:
5872
dbSNP:
121912628
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618182C>T , CM000667.2:g.132618182C>T GRCh38
NC_000005.9:g.131953874C>T , CM000667.1:g.131953874C>T GRCh37
NC_000005.8:g.131981773C>T NCBI36
NG_021151.1:g.66259C>T
NG_021151.2:g.66206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3277C>T MANE Select ENSP00000368100.4:p.Arg1093Ter
ENST00000638452.2:c.2980C>T ENSP00000492349.2:p.Arg994Ter
ENST00000638504.1:n.2885C>T
ENST00000638568.2:c.2980C>T ENSP00000491158.2:p.Arg994Ter
ENST00000639899.1:n.3796C>T
ENST00000640655.2:c.2980C>T ENSP00000491596.2:p.Arg994Ter
ENST00000651249.1:c.113C>T
ENST00000378823.7:c.3277C>T ENSP00000368100.4:p.Arg1093Ter
ENST00000533482.5:c.*2903C>T ENSP00000431225.1:n.*2903C>T
NM_005732.3:c.3277C>T NP_005723.2:p.Arg1093Ter
NM_005732.4:c.3277C>T MANE Select NP_005723.2:p.Arg1093Ter
Search 100 bp 5'
Search 100 bp 3'