Canonical Allele Identifier: CA331871

Gene: RAD50

Linked Data

• ClinVar Variation Id: 128005
• ClinVar RCV Id: RCV000115941 ; RCV000212917 ; RCV001264454 ; RCV002257408
• dbSNP Id: rs28903093
• ExAC: 5:131940498 T / C
• gnomAD v2: 5-131940498-T-C
• gnomAD v3: 5-132604806-T-C
• gnomAD v4: 5-132604806-T-C
• MyVariant Identifiers: chr5:g.131940498T>C (hg19) ; chr5:g.132604806T>C (hg38)
• PubMed: PMID:16385572

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604806T>C , CM000667.2:g.132604806T>C	GRCh38
NC_000005.9:g.131940498T>C , CM000667.1:g.131940498T>C	GRCh37
NC_000005.8:g.131968397T>C	NCBI36
NG_021151.1:g.52883T>C
NG_021151.2:g.52830T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2525T>C MANE Select	ENSP00000368100.4:p.Val842Ala
ENST00000638452.2:c.2228T>C	ENSP00000492349.2:p.Val743Ala
ENST00000638504.1:n.2133T>C
ENST00000638568.2:c.2228T>C	ENSP00000491158.2:p.Val743Ala
ENST00000639899.1:n.3044T>C
ENST00000640655.2:c.2228T>C	ENSP00000491596.2:p.Val743Ala
ENST00000651160.1:c.*669T>C	ENSP00000498829.1:n.*669T>C
ENST00000651723.1:c.*2608T>C	ENSP00000498237.1:n.*2608T>C
ENST00000652016.1:c.*742T>C	ENSP00000498267.1:n.*742T>C
ENST00000652485.1:c.2558T>C	ENSP00000498973.1:p.Val853Ala
ENST00000378823.7:c.2525T>C	ENSP00000368100.4:p.Val842Ala
ENST00000423956.5:c.*711T>C	ENSP00000390971.1:n.*711T>C
ENST00000533482.5:c.*2151T>C	ENSP00000431225.1:n.*2151T>C
NM_005732.3:c.2525T>C	NP_005723.2:p.Val842Ala
NM_005732.4:c.2525T>C MANE Select	NP_005723.2:p.Val842Ala