Canonical Allele Identifier: CA360946417

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457383
• ClinVar RCV Id: RCV000555468
• dbSNP Id: rs786203901
• gnomAD v4: 5-132591921-T-A
• MyVariant Identifiers: chr5:g.131927613T>A (hg19) ; chr5:g.132591921T>A (hg38)
• PubMed: PMID:25503501 ; PMID:26011570

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591921T>A , CM000667.2:g.132591921T>A	GRCh38
NC_000005.9:g.131927613T>A , CM000667.1:g.131927613T>A	GRCh37
NC_000005.8:g.131955512T>A	NCBI36
NG_021151.1:g.39998T>A
NG_021151.2:g.39945T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1680T>A MANE Select	ENSP00000368100.4:p.Ser560Arg
ENST00000638452.2:c.1383T>A	ENSP00000492349.2:p.Ser461Arg
ENST00000638504.1:n.1366T>A
ENST00000638568.2:c.1383T>A	ENSP00000491158.2:p.Ser461Arg
ENST00000639899.1:n.2199T>A
ENST00000640655.2:c.1383T>A	ENSP00000491596.2:p.Ser461Arg
ENST00000651160.1:c.1680T>A	ENSP00000498829.1:p.Ser560Arg
ENST00000651541.1:c.1383T>A	ENSP00000498795.1:p.Ser461Arg
ENST00000651658.1:n.2107T>A
ENST00000651723.1:c.*1763T>A	ENSP00000498237.1:n.*1763T>A
ENST00000652016.1:c.1680T>A	ENSP00000498267.1:p.Ser560Arg
ENST00000652485.1:c.1713T>A	ENSP00000498973.1:p.Ser571Arg
ENST00000378823.7:c.1680T>A	ENSP00000368100.4:p.Ser560Arg
ENST00000423956.5:c.1635+515T>A	ENSP00000390971.1:n.1635+515T>A
ENST00000434288.1:c.175T>A
ENST00000453394.5:c.1497T>A	ENSP00000400049.1:p.Ser499Arg
ENST00000533482.5:c.*1306T>A	ENSP00000431225.1:n.*1306T>A
NM_005732.3:c.1680T>A	NP_005723.2:p.Ser560Arg
NM_005732.4:c.1680T>A MANE Select	NP_005723.2:p.Ser560Arg