Canonical Allele Identifier: CA3405288
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 820247
ClinVar RCV Id: RCV001013508
dbSNP Id: rs764497795

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594957A>G , CM000667.2:g.132594957A>G GRCh38
NC_000005.9:g.131930649A>G , CM000667.1:g.131930649A>G GRCh37
NC_000005.8:g.131958548A>G NCBI36
NG_021151.1:g.43034A>G
NG_021151.2:g.42981A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1882A>G MANE Select ENSP00000368100.4:p.Lys628Glu
ENST00000638452.2:c.1585A>G ENSP00000492349.2:p.Lys529Glu
ENST00000638504.1:n.1480-147A>G
ENST00000638568.2:c.1585A>G ENSP00000491158.2:p.Lys529Glu
ENST00000639899.1:n.2401A>G
ENST00000640655.2:c.1585A>G ENSP00000491596.2:p.Lys529Glu
ENST00000651160.1:c.*16-147A>G ENSP00000498829.1:n.*16-147A>G
ENST00000651658.1:n.2425A>G
ENST00000651723.1:c.*1965A>G ENSP00000498237.1:n.*1965A>G
ENST00000652016.1:c.*89-147A>G ENSP00000498267.1:n.*89-147A>G
ENST00000652485.1:c.1915A>G ENSP00000498973.1:p.Lys639Glu
ENST00000378823.7:c.1882A>G ENSP00000368100.4:p.Lys628Glu
ENST00000423956.5:c.*68A>G ENSP00000390971.1:n.*68A>G
ENST00000453394.5:c.1699A>G ENSP00000400049.1:p.Lys567Glu
ENST00000533482.5:c.*1508A>G ENSP00000431225.1:n.*1508A>G
NM_005732.3:c.1882A>G NP_005723.2:p.Lys628Glu
NM_005732.4:c.1882A>G MANE Select NP_005723.2:p.Lys628Glu