Canonical Allele Identifier: CA360947388

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1495666
• ClinVar RCV Id: RCV002015331
• dbSNP Id: rs1345271674
• MyVariant Identifiers: chr5:g.131930569T>C (hg19) ; chr5:g.132594877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594877T>C , CM000667.2:g.132594877T>C	GRCh38
NC_000005.9:g.131930569T>C , CM000667.1:g.131930569T>C	GRCh37
NC_000005.8:g.131958468T>C	NCBI36
NG_021151.1:g.42954T>C
NG_021151.2:g.42901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1802T>C MANE Select	ENSP00000368100.4:p.Leu601Pro
ENST00000638452.2:c.1505T>C	ENSP00000492349.2:p.Leu502Pro
ENST00000638504.1:n.1480-227T>C
ENST00000638568.2:c.1505T>C	ENSP00000491158.2:p.Leu502Pro
ENST00000639899.1:n.2321T>C
ENST00000640655.2:c.1505T>C	ENSP00000491596.2:p.Leu502Pro
ENST00000651160.1:c.*16-227T>C	ENSP00000498829.1:n.*16-227T>C
ENST00000651658.1:n.2345T>C
ENST00000651723.1:c.*1885T>C	ENSP00000498237.1:n.*1885T>C
ENST00000652016.1:c.*88+200T>C	ENSP00000498267.1:n.*88+200T>C
ENST00000652485.1:c.1835T>C	ENSP00000498973.1:p.Leu612Pro
ENST00000378823.7:c.1802T>C	ENSP00000368100.4:p.Leu601Pro
ENST00000423956.5:c.1644T>C	ENSP00000390971.1:p.Thr548=
ENST00000453394.5:c.1619T>C	ENSP00000400049.1:p.Leu540Pro
ENST00000533482.5:c.*1428T>C	ENSP00000431225.1:n.*1428T>C
NM_005732.3:c.1802T>C	NP_005723.2:p.Leu601Pro
NM_005732.4:c.1802T>C MANE Select	NP_005723.2:p.Leu601Pro