Canonical Allele Identifier: CA360946522

Gene: RAD50

Linked Data

• ClinVar Variation Id: 819944
• ClinVar RCV Id: RCV001012909
• dbSNP Id: rs1580994889
• MyVariant Identifiers: chr5:g.131927660T>G (hg19) ; chr5:g.132591968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591968T>G , CM000667.2:g.132591968T>G	GRCh38
NC_000005.9:g.131927660T>G , CM000667.1:g.131927660T>G	GRCh37
NC_000005.8:g.131955559T>G	NCBI36
NG_021151.1:g.40045T>G
NG_021151.2:g.39992T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1727T>G MANE Select	ENSP00000368100.4:p.Leu576Arg
ENST00000638452.2:c.1430T>G	ENSP00000492349.2:p.Leu477Arg
ENST00000638504.1:n.1413T>G
ENST00000638568.2:c.1430T>G	ENSP00000491158.2:p.Leu477Arg
ENST00000639899.1:n.2246T>G
ENST00000640655.2:c.1430T>G	ENSP00000491596.2:p.Leu477Arg
ENST00000651160.1:c.1727T>G	ENSP00000498829.1:p.Leu576Arg
ENST00000651541.1:c.1430T>G	ENSP00000498795.1:p.Leu477Arg
ENST00000651658.1:n.2154T>G
ENST00000651723.1:c.*1810T>G	ENSP00000498237.1:n.*1810T>G
ENST00000652016.1:c.1727T>G	ENSP00000498267.1:p.Leu576Arg
ENST00000652485.1:c.1760T>G	ENSP00000498973.1:p.Leu587Arg
ENST00000378823.7:c.1727T>G	ENSP00000368100.4:p.Leu576Arg
ENST00000423956.5:c.1635+562T>G	ENSP00000390971.1:n.1635+562T>G
ENST00000434288.1:c.222T>G
ENST00000453394.5:c.1544T>G	ENSP00000400049.1:p.Leu515Arg
ENST00000533482.5:c.*1353T>G	ENSP00000431225.1:n.*1353T>G
NM_005732.3:c.1727T>G	NP_005723.2:p.Leu576Arg
NM_005732.4:c.1727T>G MANE Select	NP_005723.2:p.Leu576Arg