Canonical Allele Identifier: CA360956830

Gene: RAD50

Linked Data

• ClinVar Variation Id: 527334
• ClinVar RCV Id: RCV000632193
• dbSNP Id: rs1554099197
• MyVariant Identifiers: chr5:g.131940647G>A (hg19) ; chr5:g.132604955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604955G>A , CM000667.2:g.132604955G>A	GRCh38
NC_000005.9:g.131940647G>A , CM000667.1:g.131940647G>A	GRCh37
NC_000005.8:g.131968546G>A	NCBI36
NG_021151.1:g.53032G>A
NG_021151.2:g.52979G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2674G>A MANE Select	ENSP00000368100.4:p.Val892Met
ENST00000638452.2:c.2377G>A	ENSP00000492349.2:p.Val793Met
ENST00000638504.1:n.2282G>A
ENST00000638568.2:c.2377G>A	ENSP00000491158.2:p.Val793Met
ENST00000639899.1:n.3193G>A
ENST00000640655.2:c.2377G>A	ENSP00000491596.2:p.Val793Met
ENST00000651160.1:c.*818G>A	ENSP00000498829.1:n.*818G>A
ENST00000651723.1:c.*2757G>A	ENSP00000498237.1:n.*2757G>A
ENST00000652016.1:c.*891G>A	ENSP00000498267.1:n.*891G>A
ENST00000378823.7:c.2674G>A	ENSP00000368100.4:p.Val892Met
ENST00000423956.5:c.*860G>A	ENSP00000390971.1:n.*860G>A
ENST00000533482.5:c.*2300G>A	ENSP00000431225.1:n.*2300G>A
NM_005732.3:c.2674G>A	NP_005723.2:p.Val892Met
NM_005732.4:c.2674G>A MANE Select	NP_005723.2:p.Val892Met