Canonical Allele Identifier: CA360959933

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1797471
• ClinVar RCV Id: RCV002438096
• MyVariant Identifiers: chr5:g.131944881G>A (hg19) ; chr5:g.132609189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609189G>A , CM000667.2:g.132609189G>A	GRCh38
NC_000005.9:g.131944881G>A , CM000667.1:g.131944881G>A	GRCh37
NC_000005.8:g.131972780G>A	NCBI36
NG_021151.1:g.57266G>A
NG_021151.2:g.57213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2902G>A MANE Select	ENSP00000368100.4:p.Gly968Arg
ENST00000638452.2:c.2605G>A	ENSP00000492349.2:p.Gly869Arg
ENST00000638504.1:n.2510G>A
ENST00000638568.2:c.2605G>A	ENSP00000491158.2:p.Gly869Arg
ENST00000639899.1:n.3421G>A
ENST00000640655.2:c.2605G>A	ENSP00000491596.2:p.Gly869Arg
ENST00000651160.1:c.*1046G>A	ENSP00000498829.1:n.*1046G>A
ENST00000651723.1:c.*2985G>A	ENSP00000498237.1:n.*2985G>A
ENST00000378823.7:c.2902G>A	ENSP00000368100.4:p.Gly968Arg
ENST00000423956.5:c.*1088G>A	ENSP00000390971.1:n.*1088G>A
ENST00000533482.5:c.*2528G>A	ENSP00000431225.1:n.*2528G>A
NM_005732.3:c.2902G>A	NP_005723.2:p.Gly968Arg
NM_005732.4:c.2902G>A MANE Select	NP_005723.2:p.Gly968Arg