Canonical Allele Identifier: CA360956920

Gene: RAD50

Linked Data

• ClinVar Variation Id: 929139
• ClinVar RCV Id: RCV001194189
• dbSNP Id: rs1750958706
• MyVariant Identifiers: chr5:g.131940666T>G (hg19) ; chr5:g.132604974T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604974T>G , CM000667.2:g.132604974T>G	GRCh38
NC_000005.9:g.131940666T>G , CM000667.1:g.131940666T>G	GRCh37
NC_000005.8:g.131968565T>G	NCBI36
NG_021151.1:g.53051T>G
NG_021151.2:g.52998T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2693T>G MANE Select	ENSP00000368100.4:p.Val898Gly
ENST00000638452.2:c.2396T>G	ENSP00000492349.2:p.Val799Gly
ENST00000638504.1:n.2301T>G
ENST00000638568.2:c.2396T>G	ENSP00000491158.2:p.Val799Gly
ENST00000639899.1:n.3212T>G
ENST00000640655.2:c.2396T>G	ENSP00000491596.2:p.Val799Gly
ENST00000651160.1:c.*837T>G	ENSP00000498829.1:n.*837T>G
ENST00000651723.1:c.*2776T>G	ENSP00000498237.1:n.*2776T>G
ENST00000652016.1:c.*910T>G	ENSP00000498267.1:n.*910T>G
ENST00000378823.7:c.2693T>G	ENSP00000368100.4:p.Val898Gly
ENST00000423956.5:c.*879T>G	ENSP00000390971.1:n.*879T>G
ENST00000533482.5:c.*2319T>G	ENSP00000431225.1:n.*2319T>G
NM_005732.3:c.2693T>G	NP_005723.2:p.Val898Gly
NM_005732.4:c.2693T>G MANE Select	NP_005723.2:p.Val898Gly