Canonical Allele Identifier: CA331863

Gene: RAD50

Linked Data

• ClinVar Variation Id: 128000
• ClinVar RCV Id: RCV000115936 ; RCV000212911 ; RCV001290539
• dbSNP Id: rs144749616
• ExAC: 5:131930678 T / A
• gnomAD v2: 5-131930678-T-A
• gnomAD v3: 5-132594986-T-A
• gnomAD v4: 5-132594986-T-A
• MyVariant Identifiers: chr5:g.131930678T>A (hg19) ; chr5:g.132594986T>A (hg38)
• PubMed: PMID:23555315 ; PMID:24894818 ; PMID:26787654 ; PMID:28102005

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594986T>A , CM000667.2:g.132594986T>A	GRCh38
NC_000005.9:g.131930678T>A , CM000667.1:g.131930678T>A	GRCh37
NC_000005.8:g.131958577T>A	NCBI36
NG_021151.1:g.43063T>A
NG_021151.2:g.43010T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1911T>A MANE Select	ENSP00000368100.4:p.Asp637Glu
ENST00000638452.2:c.1614T>A	ENSP00000492349.2:p.Asp538Glu
ENST00000638504.1:n.1480-118T>A
ENST00000638568.2:c.1614T>A	ENSP00000491158.2:p.Asp538Glu
ENST00000639899.1:n.2430T>A
ENST00000640655.2:c.1614T>A	ENSP00000491596.2:p.Asp538Glu
ENST00000651160.1:c.*16-118T>A	ENSP00000498829.1:n.*16-118T>A
ENST00000651658.1:n.2454T>A
ENST00000651723.1:c.*1994T>A	ENSP00000498237.1:n.*1994T>A
ENST00000652016.1:c.*89-118T>A	ENSP00000498267.1:n.*89-118T>A
ENST00000652485.1:c.1944T>A	ENSP00000498973.1:p.Asp648Glu
ENST00000378823.7:c.1911T>A	ENSP00000368100.4:p.Asp637Glu
ENST00000423956.5:c.*97T>A	ENSP00000390971.1:n.*97T>A
ENST00000453394.5:c.1728T>A	ENSP00000400049.1:p.Asp576Glu
ENST00000533482.5:c.*1537T>A	ENSP00000431225.1:n.*1537T>A
NM_005732.3:c.1911T>A	NP_005723.2:p.Asp637Glu
NM_005732.4:c.1911T>A MANE Select	NP_005723.2:p.Asp637Glu