Canonical Allele Identifier: CA360964841

Gene: RAD50

Linked Data

• ClinVar Variation Id: 823571
• ClinVar RCV Id: RCV001019929 ; RCV003478641
• dbSNP Id: rs1581009525
• gnomAD v4: 5-132618221-G-A
• MyVariant Identifiers: chr5:g.131953913G>A (hg19) ; chr5:g.132618221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618221G>A , CM000667.2:g.132618221G>A	GRCh38
NC_000005.9:g.131953913G>A , CM000667.1:g.131953913G>A	GRCh37
NC_000005.8:g.131981812G>A	NCBI36
NG_021151.1:g.66298G>A
NG_021151.2:g.66245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3316G>A MANE Select	ENSP00000368100.4:p.Glu1106Lys
ENST00000638452.2:c.3019G>A	ENSP00000492349.2:p.Glu1007Lys
ENST00000638504.1:n.2924G>A
ENST00000638568.2:c.3019G>A	ENSP00000491158.2:p.Glu1007Lys
ENST00000639899.1:n.3835G>A
ENST00000640655.2:c.3019G>A	ENSP00000491596.2:p.Glu1007Lys
ENST00000651249.1:c.152G>A
ENST00000378823.7:c.3316G>A	ENSP00000368100.4:p.Glu1106Lys
ENST00000533482.5:c.*2942G>A	ENSP00000431225.1:n.*2942G>A
NM_005732.3:c.3316G>A	NP_005723.2:p.Glu1106Lys
NM_005732.4:c.3316G>A MANE Select	NP_005723.2:p.Glu1106Lys