Canonical Allele Identifier: CA3405471

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1797049
• ClinVar RCV Id: RCV002437674
• dbSNP Id: rs752752641
• ExAC: 5:131944849 A / G
• gnomAD v2: 5-131944849-A-G
• gnomAD v4: 5-132609157-A-G
• MyVariant Identifiers: chr5:g.131944849A>G (hg19) ; chr5:g.132609157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609157A>G , CM000667.2:g.132609157A>G	GRCh38
NC_000005.9:g.131944849A>G , CM000667.1:g.131944849A>G	GRCh37
NC_000005.8:g.131972748A>G	NCBI36
NG_021151.1:g.57234A>G
NG_021151.2:g.57181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2870A>G MANE Select	ENSP00000368100.4:p.Tyr957Cys
ENST00000638452.2:c.2573A>G	ENSP00000492349.2:p.Tyr858Cys
ENST00000638504.1:n.2478A>G
ENST00000638568.2:c.2573A>G	ENSP00000491158.2:p.Tyr858Cys
ENST00000639899.1:n.3389A>G
ENST00000640655.2:c.2573A>G	ENSP00000491596.2:p.Tyr858Cys
ENST00000651160.1:c.*1014A>G	ENSP00000498829.1:n.*1014A>G
ENST00000651723.1:c.*2953A>G	ENSP00000498237.1:n.*2953A>G
ENST00000378823.7:c.2870A>G	ENSP00000368100.4:p.Tyr957Cys
ENST00000423956.5:c.*1056A>G	ENSP00000390971.1:n.*1056A>G
ENST00000533482.5:c.*2496A>G	ENSP00000431225.1:n.*2496A>G
NM_005732.3:c.2870A>G	NP_005723.2:p.Tyr957Cys
NM_005732.4:c.2870A>G MANE Select	NP_005723.2:p.Tyr957Cys