Canonical Allele Identifier: CA333279

Gene: RAD50

Linked Data

• ClinVar Variation Id: 142780
• ClinVar RCV Id: RCV000132186 ; RCV000764586
• dbSNP Id: rs373817937
• ExAC: 5:131940503 A / C
• gnomAD v2: 5-131940503-A-C
• gnomAD v3: 5-132604811-A-C
• gnomAD v4: 5-132604811-A-C
• MyVariant Identifiers: chr5:g.131940503A>C (hg19) ; chr5:g.132604811A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604811A>C , CM000667.2:g.132604811A>C	GRCh38
NC_000005.9:g.131940503A>C , CM000667.1:g.131940503A>C	GRCh37
NC_000005.8:g.131968402A>C	NCBI36
NG_021151.1:g.52888A>C
NG_021151.2:g.52835A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2530A>C MANE Select	ENSP00000368100.4:p.Ser844Arg
ENST00000638452.2:c.2233A>C	ENSP00000492349.2:p.Ser745Arg
ENST00000638504.1:n.2138A>C
ENST00000638568.2:c.2233A>C	ENSP00000491158.2:p.Ser745Arg
ENST00000639899.1:n.3049A>C
ENST00000640655.2:c.2233A>C	ENSP00000491596.2:p.Ser745Arg
ENST00000651160.1:c.*674A>C	ENSP00000498829.1:n.*674A>C
ENST00000651723.1:c.*2613A>C	ENSP00000498237.1:n.*2613A>C
ENST00000652016.1:c.*747A>C	ENSP00000498267.1:n.*747A>C
ENST00000652485.1:c.2563A>C	ENSP00000498973.1:p.Ser855Arg
ENST00000378823.7:c.2530A>C	ENSP00000368100.4:p.Ser844Arg
ENST00000423956.5:c.*716A>C	ENSP00000390971.1:n.*716A>C
ENST00000533482.5:c.*2156A>C	ENSP00000431225.1:n.*2156A>C
NM_005732.3:c.2530A>C	NP_005723.2:p.Ser844Arg
NM_005732.4:c.2530A>C MANE Select	NP_005723.2:p.Ser844Arg