Canonical Allele Identifier: CA360960038

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821970
• ClinVar RCV Id: RCV001016920
• dbSNP Id: rs1581004729
• gnomAD v4: 5-132609202-A-G
• MyVariant Identifiers: chr5:g.131944894A>G (hg19) ; chr5:g.132609202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609202A>G , CM000667.2:g.132609202A>G	GRCh38
NC_000005.9:g.131944894A>G , CM000667.1:g.131944894A>G	GRCh37
NC_000005.8:g.131972793A>G	NCBI36
NG_021151.1:g.57279A>G
NG_021151.2:g.57226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2915A>G MANE Select	ENSP00000368100.4:p.Tyr972Cys
ENST00000638452.2:c.2618A>G	ENSP00000492349.2:p.Tyr873Cys
ENST00000638504.1:n.2523A>G
ENST00000638568.2:c.2618A>G	ENSP00000491158.2:p.Tyr873Cys
ENST00000639899.1:n.3434A>G
ENST00000640655.2:c.2618A>G	ENSP00000491596.2:p.Tyr873Cys
ENST00000651160.1:c.*1059A>G	ENSP00000498829.1:n.*1059A>G
ENST00000651723.1:c.*2998A>G	ENSP00000498237.1:n.*2998A>G
ENST00000378823.7:c.2915A>G	ENSP00000368100.4:p.Tyr972Cys
ENST00000423956.5:c.*1101A>G	ENSP00000390971.1:n.*1101A>G
ENST00000533482.5:c.*2541A>G	ENSP00000431225.1:n.*2541A>G
NM_005732.3:c.2915A>G	NP_005723.2:p.Tyr972Cys
NM_005732.4:c.2915A>G MANE Select	NP_005723.2:p.Tyr972Cys