Canonical Allele Identifier: CA360960050

Gene: RAD50

Linked Data

• ClinVar Variation Id: 947029
• ClinVar RCV Id: RCV001218010
• dbSNP Id: rs1129482
• gnomAD v4: 5-132609205-A-G
• MyVariant Identifiers: chr5:g.131944897A>G (hg19) ; chr5:g.132609205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609205A>G , CM000667.2:g.132609205A>G	GRCh38
NC_000005.9:g.131944897A>G , CM000667.1:g.131944897A>G	GRCh37
NC_000005.8:g.131972796A>G	NCBI36
NG_021151.1:g.57282A>G
NG_021151.2:g.57229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2918A>G MANE Select	ENSP00000368100.4:p.Lys973Arg
ENST00000638452.2:c.2621A>G	ENSP00000492349.2:p.Lys874Arg
ENST00000638504.1:n.2526A>G
ENST00000638568.2:c.2621A>G	ENSP00000491158.2:p.Lys874Arg
ENST00000639899.1:n.3437A>G
ENST00000640655.2:c.2621A>G	ENSP00000491596.2:p.Lys874Arg
ENST00000651160.1:c.*1062A>G	ENSP00000498829.1:n.*1062A>G
ENST00000651723.1:c.*3001A>G	ENSP00000498237.1:n.*3001A>G
ENST00000378823.7:c.2918A>G	ENSP00000368100.4:p.Lys973Arg
ENST00000423956.5:c.*1104A>G	ENSP00000390971.1:n.*1104A>G
ENST00000533482.5:c.*2544A>G	ENSP00000431225.1:n.*2544A>G
NM_005732.3:c.2918A>G	NP_005723.2:p.Lys973Arg
NM_005732.4:c.2918A>G MANE Select	NP_005723.2:p.Lys973Arg