Canonical Allele Identifier: CA360948129

Gene: RAD50

Linked Data

• ClinVar Variation Id: 484632
• ClinVar RCV Id: RCV000571673
• dbSNP Id: rs1554098601
• gnomAD v4: 5-132594984-G-A
• MyVariant Identifiers: chr5:g.131930676G>A (hg19) ; chr5:g.132594984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594984G>A , CM000667.2:g.132594984G>A	GRCh38
NC_000005.9:g.131930676G>A , CM000667.1:g.131930676G>A	GRCh37
NC_000005.8:g.131958575G>A	NCBI36
NG_021151.1:g.43061G>A
NG_021151.2:g.43008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1909G>A MANE Select	ENSP00000368100.4:p.Asp637Asn
ENST00000638452.2:c.1612G>A	ENSP00000492349.2:p.Asp538Asn
ENST00000638504.1:n.1480-120G>A
ENST00000638568.2:c.1612G>A	ENSP00000491158.2:p.Asp538Asn
ENST00000639899.1:n.2428G>A
ENST00000640655.2:c.1612G>A	ENSP00000491596.2:p.Asp538Asn
ENST00000651160.1:c.*16-120G>A	ENSP00000498829.1:n.*16-120G>A
ENST00000651658.1:n.2452G>A
ENST00000651723.1:c.*1992G>A	ENSP00000498237.1:n.*1992G>A
ENST00000652016.1:c.*89-120G>A	ENSP00000498267.1:n.*89-120G>A
ENST00000652485.1:c.1942G>A	ENSP00000498973.1:p.Asp648Asn
ENST00000378823.7:c.1909G>A	ENSP00000368100.4:p.Asp637Asn
ENST00000423956.5:c.*95G>A	ENSP00000390971.1:n.*95G>A
ENST00000453394.5:c.1726G>A	ENSP00000400049.1:p.Asp576Asn
ENST00000533482.5:c.*1535G>A	ENSP00000431225.1:n.*1535G>A
NM_005732.3:c.1909G>A	NP_005723.2:p.Asp637Asn
NM_005732.4:c.1909G>A MANE Select	NP_005723.2:p.Asp637Asn