Canonical Allele Identifier: CA360959681

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2451433
• ClinVar RCV Id: RCV003182449
• MyVariant Identifiers: chr5:g.131944853G>A (hg19) ; chr5:g.132609161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609161G>A , CM000667.2:g.132609161G>A	GRCh38
NC_000005.9:g.131944853G>A , CM000667.1:g.131944853G>A	GRCh37
NC_000005.8:g.131972752G>A	NCBI36
NG_021151.1:g.57238G>A
NG_021151.2:g.57185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2874G>A MANE Select	ENSP00000368100.4:p.Met958Ile
ENST00000638452.2:c.2577G>A	ENSP00000492349.2:p.Met859Ile
ENST00000638504.1:n.2482G>A
ENST00000638568.2:c.2577G>A	ENSP00000491158.2:p.Met859Ile
ENST00000639899.1:n.3393G>A
ENST00000640655.2:c.2577G>A	ENSP00000491596.2:p.Met859Ile
ENST00000651160.1:c.*1018G>A	ENSP00000498829.1:n.*1018G>A
ENST00000651723.1:c.*2957G>A	ENSP00000498237.1:n.*2957G>A
ENST00000378823.7:c.2874G>A	ENSP00000368100.4:p.Met958Ile
ENST00000423956.5:c.*1060G>A	ENSP00000390971.1:n.*1060G>A
ENST00000533482.5:c.*2500G>A	ENSP00000431225.1:n.*2500G>A
NM_005732.3:c.2874G>A	NP_005723.2:p.Met958Ile
NM_005732.4:c.2874G>A MANE Select	NP_005723.2:p.Met958Ile