Canonical Allele Identifier: CA360946430

Gene: RAD50

Linked Data

• ClinVar Variation Id: 819829
• ClinVar RCV Id: RCV001012724
• dbSNP Id: rs1580994829
• gnomAD v4: 5-132591926-A-G
• MyVariant Identifiers: chr5:g.131927618A>G (hg19) ; chr5:g.132591926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591926A>G , CM000667.2:g.132591926A>G	GRCh38
NC_000005.9:g.131927618A>G , CM000667.1:g.131927618A>G	GRCh37
NC_000005.8:g.131955517A>G	NCBI36
NG_021151.1:g.40003A>G
NG_021151.2:g.39950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1685A>G MANE Select	ENSP00000368100.4:p.Glu562Gly
ENST00000638452.2:c.1388A>G	ENSP00000492349.2:p.Glu463Gly
ENST00000638504.1:n.1371A>G
ENST00000638568.2:c.1388A>G	ENSP00000491158.2:p.Glu463Gly
ENST00000639899.1:n.2204A>G
ENST00000640655.2:c.1388A>G	ENSP00000491596.2:p.Glu463Gly
ENST00000651160.1:c.1685A>G	ENSP00000498829.1:p.Glu562Gly
ENST00000651541.1:c.1388A>G	ENSP00000498795.1:p.Glu463Gly
ENST00000651658.1:n.2112A>G
ENST00000651723.1:c.*1768A>G	ENSP00000498237.1:n.*1768A>G
ENST00000652016.1:c.1685A>G	ENSP00000498267.1:p.Glu562Gly
ENST00000652485.1:c.1718A>G	ENSP00000498973.1:p.Glu573Gly
ENST00000378823.7:c.1685A>G	ENSP00000368100.4:p.Glu562Gly
ENST00000423956.5:c.1635+520A>G	ENSP00000390971.1:n.1635+520A>G
ENST00000434288.1:c.180A>G
ENST00000453394.5:c.1502A>G	ENSP00000400049.1:p.Glu501Gly
ENST00000533482.5:c.*1311A>G	ENSP00000431225.1:n.*1311A>G
NM_005732.3:c.1685A>G	NP_005723.2:p.Glu562Gly
NM_005732.4:c.1685A>G MANE Select	NP_005723.2:p.Glu562Gly