Canonical Allele Identifier: CA338234
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 216628
dbSNP Id: rs542347773

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132575886A>G , CM000667.2:g.132575886A>G GRCh38
NC_000005.9:g.131911578A>G , CM000667.1:g.131911578A>G GRCh37
NC_000005.8:g.131939477A>G NCBI36
NG_021151.1:g.23963A>G
NG_021151.2:g.23910A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.323A>G MANE Select ENSP00000368100.4:p.Lys108Arg
ENST00000638452.2:c.26A>G ENSP00000492349.2:p.Lys9Arg
ENST00000638504.1:n.400A>G
ENST00000638568.2:c.26A>G ENSP00000491158.2:p.Lys9Arg
ENST00000639899.1:n.483A>G
ENST00000640655.2:c.26A>G ENSP00000491596.2:p.Lys9Arg
ENST00000651160.1:c.323A>G ENSP00000498829.1:p.Lys108Arg
ENST00000651541.1:c.26A>G ENSP00000498795.1:p.Lys9Arg
ENST00000651658.1:n.391A>G
ENST00000651723.1:c.*448+23A>G ENSP00000498237.1:p.=
ENST00000652016.1:c.323A>G ENSP00000498267.1:p.Lys108Arg
ENST00000652485.1:c.323A>G ENSP00000498973.1:p.Lys108Arg
ENST00000378823.7:c.323A>G ENSP00000368100.4:p.Lys108Arg
ENST00000416135.5:c.26A>G ENSP00000389515.1:p.Lys9Arg
ENST00000423956.5:c.323A>G ENSP00000390971.1:p.Lys108Arg
ENST00000453394.5:c.323A>G ENSP00000400049.1:p.Lys108Arg
ENST00000533482.5:c.300+23A>G ENSP00000431225.1:p.=
NM_005732.3:c.323A>G NP_005723.2:p.Lys108Arg
NM_005732.4:c.323A>G MANE Select NP_005723.2:p.Lys108Arg