Canonical Allele Identifier: CA333827

Gene: RAD50

Linked Data

• ClinVar Variation Id: 183912
• ClinVar RCV Id: RCV000162784 ; RCV000987599
• dbSNP Id: rs773126534
• ExAC: 5:131931287 A / G
• gnomAD v2: 5-131931287-A-G
• gnomAD v3: 5-132595595-A-G
• gnomAD v4: 5-132595595-A-G
• MyVariant Identifiers: chr5:g.131931287A>G (hg19) ; chr5:g.132595595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595595A>G , CM000667.2:g.132595595A>G	GRCh38
NC_000005.9:g.131931287A>G , CM000667.1:g.131931287A>G	GRCh37
NC_000005.8:g.131959186A>G	NCBI36
NG_021151.1:g.43672A>G
NG_021151.2:g.43619A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1992A>G MANE Select	ENSP00000368100.4:p.Ala664=
ENST00000638452.2:c.1695A>G	ENSP00000492349.2:p.Ala565=
ENST00000638504.1:n.1600A>G
ENST00000638568.2:c.1695A>G	ENSP00000491158.2:p.Ala565=
ENST00000639899.1:n.2511A>G
ENST00000640655.2:c.1695A>G	ENSP00000491596.2:p.Ala565=
ENST00000651160.1:c.*136A>G	ENSP00000498829.1:n.*136A>G
ENST00000651658.1:n.2535A>G
ENST00000651723.1:c.*2075A>G	ENSP00000498237.1:n.*2075A>G
ENST00000652016.1:c.*209A>G	ENSP00000498267.1:n.*209A>G
ENST00000652485.1:c.2025A>G	ENSP00000498973.1:p.Ala675=
ENST00000378823.7:c.1992A>G	ENSP00000368100.4:p.Ala664=
ENST00000423956.5:c.*178A>G	ENSP00000390971.1:n.*178A>G
ENST00000453394.5:c.1809A>G	ENSP00000400049.1:p.Ala603=
ENST00000496204.1:n.75A>G
ENST00000533482.5:c.*1618A>G	ENSP00000431225.1:n.*1618A>G
NM_005732.3:c.1992A>G	NP_005723.2:p.Ala664=
NM_005732.4:c.1992A>G MANE Select	NP_005723.2:p.Ala664=