Canonical Allele Identifier: CA360942306

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1002936
• ClinVar RCV Id: RCV001299430
• dbSNP Id: rs1580992732
• gnomAD v4: 5-132588732-C-G
• MyVariant Identifiers: chr5:g.131924424C>G (hg19) ; chr5:g.132588732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588732C>G , CM000667.2:g.132588732C>G	GRCh38
NC_000005.9:g.131924424C>G , CM000667.1:g.131924424C>G	GRCh37
NC_000005.8:g.131952323C>G	NCBI36
NG_021151.1:g.36809C>G
NG_021151.2:g.36756C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1097C>G MANE Select	ENSP00000368100.4:p.Ala366Gly
ENST00000638452.2:c.800C>G	ENSP00000492349.2:p.Ala267Gly
ENST00000638504.1:n.783C>G
ENST00000638568.2:c.800C>G	ENSP00000491158.2:p.Ala267Gly
ENST00000639899.1:n.1616C>G
ENST00000640655.2:c.800C>G	ENSP00000491596.2:p.Ala267Gly
ENST00000651160.1:c.1097C>G	ENSP00000498829.1:p.Ala366Gly
ENST00000651541.1:c.800C>G	ENSP00000498795.1:p.Ala267Gly
ENST00000651658.1:n.1524C>G
ENST00000651723.1:c.*1180C>G	ENSP00000498237.1:n.*1180C>G
ENST00000652016.1:c.1097C>G	ENSP00000498267.1:p.Ala366Gly
ENST00000652485.1:c.1097C>G	ENSP00000498973.1:p.Ala366Gly
ENST00000378823.7:c.1097C>G	ENSP00000368100.4:p.Ala366Gly
ENST00000423956.5:c.1097C>G	ENSP00000390971.1:p.Ala366Gly
ENST00000453394.5:c.1097C>G	ENSP00000400049.1:p.Ala366Gly
ENST00000487596.1:n.663C>G
ENST00000533482.5:c.*723C>G	ENSP00000431225.1:n.*723C>G
NM_005732.3:c.1097C>G	NP_005723.2:p.Ala366Gly
NM_005732.4:c.1097C>G MANE Select	NP_005723.2:p.Ala366Gly