Canonical Allele Identifier: CA360948040

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457389
• ClinVar RCV Id: RCV000557918
• dbSNP Id: rs1220796191
• gnomAD v2: 5-131930661-G-A
• gnomAD v4: 5-132594969-G-A
• MyVariant Identifiers: chr5:g.131930661G>A (hg19) ; chr5:g.132594969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594969G>A , CM000667.2:g.132594969G>A	GRCh38
NC_000005.9:g.131930661G>A , CM000667.1:g.131930661G>A	GRCh37
NC_000005.8:g.131958560G>A	NCBI36
NG_021151.1:g.43046G>A
NG_021151.2:g.42993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1894G>A MANE Select	ENSP00000368100.4:p.Val632Ile
ENST00000638452.2:c.1597G>A	ENSP00000492349.2:p.Val533Ile
ENST00000638504.1:n.1480-135G>A
ENST00000638568.2:c.1597G>A	ENSP00000491158.2:p.Val533Ile
ENST00000639899.1:n.2413G>A
ENST00000640655.2:c.1597G>A	ENSP00000491596.2:p.Val533Ile
ENST00000651160.1:c.*16-135G>A	ENSP00000498829.1:n.*16-135G>A
ENST00000651658.1:n.2437G>A
ENST00000651723.1:c.*1977G>A	ENSP00000498237.1:n.*1977G>A
ENST00000652016.1:c.*89-135G>A	ENSP00000498267.1:n.*89-135G>A
ENST00000652485.1:c.1927G>A	ENSP00000498973.1:p.Val643Ile
ENST00000378823.7:c.1894G>A	ENSP00000368100.4:p.Val632Ile
ENST00000423956.5:c.*80G>A	ENSP00000390971.1:n.*80G>A
ENST00000453394.5:c.1711G>A	ENSP00000400049.1:p.Val571Ile
ENST00000533482.5:c.*1520G>A	ENSP00000431225.1:n.*1520G>A
NM_005732.3:c.1894G>A	NP_005723.2:p.Val632Ile
NM_005732.4:c.1894G>A MANE Select	NP_005723.2:p.Val632Ile