Canonical Allele Identifier: CA360948354

Gene: RAD50

Linked Data

• ClinVar Variation Id: 860112
• ClinVar RCV Id: RCV001066363
• dbSNP Id: rs1750764985
• MyVariant Identifiers: chr5:g.131930700C>A (hg19) ; chr5:g.132595008C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595008C>A , CM000667.2:g.132595008C>A	GRCh38
NC_000005.9:g.131930700C>A , CM000667.1:g.131930700C>A	GRCh37
NC_000005.8:g.131958599C>A	NCBI36
NG_021151.1:g.43085C>A
NG_021151.2:g.43032C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1933C>A MANE Select	ENSP00000368100.4:p.Leu645Ile
ENST00000638452.2:c.1636C>A	ENSP00000492349.2:p.Leu546Ile
ENST00000638504.1:n.1480-96C>A
ENST00000638568.2:c.1636C>A	ENSP00000491158.2:p.Leu546Ile
ENST00000639899.1:n.2452C>A
ENST00000640655.2:c.1636C>A	ENSP00000491596.2:p.Leu546Ile
ENST00000651160.1:c.*16-96C>A	ENSP00000498829.1:n.*16-96C>A
ENST00000651658.1:n.2476C>A
ENST00000651723.1:c.*2016C>A	ENSP00000498237.1:n.*2016C>A
ENST00000652016.1:c.*89-96C>A	ENSP00000498267.1:n.*89-96C>A
ENST00000652485.1:c.1966C>A	ENSP00000498973.1:p.Leu656Ile
ENST00000378823.7:c.1933C>A	ENSP00000368100.4:p.Leu645Ile
ENST00000423956.5:c.*119C>A	ENSP00000390971.1:n.*119C>A
ENST00000453394.5:c.1750C>A	ENSP00000400049.1:p.Leu584Ile
ENST00000533482.5:c.*1559C>A	ENSP00000431225.1:n.*1559C>A
NM_005732.3:c.1933C>A	NP_005723.2:p.Leu645Ile
NM_005732.4:c.1933C>A MANE Select	NP_005723.2:p.Leu645Ile