Canonical Allele Identifier: CA360948263

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1511822
• ClinVar RCV Id: RCV002020607
• dbSNP Id: rs2149843755
• gnomAD v4: 5-132594998-T-G
• MyVariant Identifiers: chr5:g.131930690T>G (hg19) ; chr5:g.132594998T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594998T>G , CM000667.2:g.132594998T>G	GRCh38
NC_000005.9:g.131930690T>G , CM000667.1:g.131930690T>G	GRCh37
NC_000005.8:g.131958589T>G	NCBI36
NG_021151.1:g.43075T>G
NG_021151.2:g.43022T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1923T>G MANE Select	ENSP00000368100.4:p.Asp641Glu
ENST00000638452.2:c.1626T>G	ENSP00000492349.2:p.Asp542Glu
ENST00000638504.1:n.1480-106T>G
ENST00000638568.2:c.1626T>G	ENSP00000491158.2:p.Asp542Glu
ENST00000639899.1:n.2442T>G
ENST00000640655.2:c.1626T>G	ENSP00000491596.2:p.Asp542Glu
ENST00000651160.1:c.*16-106T>G	ENSP00000498829.1:n.*16-106T>G
ENST00000651658.1:n.2466T>G
ENST00000651723.1:c.*2006T>G	ENSP00000498237.1:n.*2006T>G
ENST00000652016.1:c.*89-106T>G	ENSP00000498267.1:n.*89-106T>G
ENST00000652485.1:c.1956T>G	ENSP00000498973.1:p.Asp652Glu
ENST00000378823.7:c.1923T>G	ENSP00000368100.4:p.Asp641Glu
ENST00000423956.5:c.*109T>G	ENSP00000390971.1:n.*109T>G
ENST00000453394.5:c.1740T>G	ENSP00000400049.1:p.Asp580Glu
ENST00000533482.5:c.*1549T>G	ENSP00000431225.1:n.*1549T>G
NM_005732.3:c.1923T>G	NP_005723.2:p.Asp641Glu
NM_005732.4:c.1923T>G MANE Select	NP_005723.2:p.Asp641Glu