Canonical Allele Identifier: CA360942895

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2757685
• ClinVar RCV Id: RCV003584290
• MyVariant Identifiers: chr5:g.131924523T>A (hg19) ; chr5:g.132588831T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588831T>A , CM000667.2:g.132588831T>A	GRCh38
NC_000005.9:g.131924523T>A , CM000667.1:g.131924523T>A	GRCh37
NC_000005.8:g.131952422T>A	NCBI36
NG_021151.1:g.36908T>A
NG_021151.2:g.36855T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1196T>A MANE Select	ENSP00000368100.4:p.Leu399His
ENST00000638452.2:c.899T>A	ENSP00000492349.2:p.Leu300His
ENST00000638504.1:n.882T>A
ENST00000638568.2:c.899T>A	ENSP00000491158.2:p.Leu300His
ENST00000639899.1:n.1715T>A
ENST00000640655.2:c.899T>A	ENSP00000491596.2:p.Leu300His
ENST00000651160.1:c.1196T>A	ENSP00000498829.1:p.Leu399His
ENST00000651541.1:c.899T>A	ENSP00000498795.1:p.Leu300His
ENST00000651658.1:n.1623T>A
ENST00000651723.1:c.*1279T>A	ENSP00000498237.1:n.*1279T>A
ENST00000652016.1:c.1196T>A	ENSP00000498267.1:p.Leu399His
ENST00000652485.1:c.1196T>A	ENSP00000498973.1:p.Leu399His
ENST00000378823.7:c.1196T>A	ENSP00000368100.4:p.Leu399His
ENST00000423956.5:c.1196T>A	ENSP00000390971.1:p.Leu399His
ENST00000453394.5:c.1196T>A	ENSP00000400049.1:p.Leu399His
ENST00000533482.5:c.*822T>A	ENSP00000431225.1:n.*822T>A
NM_005732.3:c.1196T>A	NP_005723.2:p.Leu399His
NM_005732.4:c.1196T>A MANE Select	NP_005723.2:p.Leu399His