Canonical Allele Identifier: CA3405151

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457370
• ClinVar RCV Id: RCV000527089
• dbSNP Id: rs769385714
• ExAC: 5:131925352 A / G
• gnomAD v2: 5-131925352-A-G
• gnomAD v4: 5-132589660-A-G
• MyVariant Identifiers: chr5:g.131925352A>G (hg19) ; chr5:g.132589660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589660A>G , CM000667.2:g.132589660A>G	GRCh38
NC_000005.9:g.131925352A>G , CM000667.1:g.131925352A>G	GRCh37
NC_000005.8:g.131953251A>G	NCBI36
NG_021151.1:g.37737A>G
NG_021151.2:g.37684A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1275A>G MANE Select	ENSP00000368100.4:p.Lys425=
ENST00000638452.2:c.978A>G	ENSP00000492349.2:p.Lys326=
ENST00000638504.1:n.961A>G
ENST00000638568.2:c.978A>G	ENSP00000491158.2:p.Lys326=
ENST00000639899.1:n.1794A>G
ENST00000640655.2:c.978A>G	ENSP00000491596.2:p.Lys326=
ENST00000651160.1:c.1275A>G	ENSP00000498829.1:p.Lys425=
ENST00000651541.1:c.978A>G	ENSP00000498795.1:p.Lys326=
ENST00000651658.1:n.1702A>G
ENST00000651723.1:c.*1358A>G	ENSP00000498237.1:n.*1358A>G
ENST00000652016.1:c.1275A>G	ENSP00000498267.1:p.Lys425=
ENST00000652485.1:c.1275A>G	ENSP00000498973.1:p.Lys425=
ENST00000378823.7:c.1275A>G	ENSP00000368100.4:p.Lys425=
ENST00000423956.5:c.1275A>G	ENSP00000390971.1:p.Lys425=
ENST00000453394.5:c.1275A>G	ENSP00000400049.1:p.Lys425=
ENST00000533482.5:c.*901A>G	ENSP00000431225.1:n.*901A>G
NM_005732.3:c.1275A>G	NP_005723.2:p.Lys425=
NM_005732.4:c.1275A>G MANE Select	NP_005723.2:p.Lys425=