Canonical Allele Identifier: CA360956847

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1464686
• ClinVar RCV Id: RCV001963519
• dbSNP Id: rs1750958325
• MyVariant Identifiers: chr5:g.131940651A>C (hg19) ; chr5:g.132604959A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604959A>C , CM000667.2:g.132604959A>C	GRCh38
NC_000005.9:g.131940651A>C , CM000667.1:g.131940651A>C	GRCh37
NC_000005.8:g.131968550A>C	NCBI36
NG_021151.1:g.53036A>C
NG_021151.2:g.52983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2678A>C MANE Select	ENSP00000368100.4:p.Glu893Ala
ENST00000638452.2:c.2381A>C	ENSP00000492349.2:p.Glu794Ala
ENST00000638504.1:n.2286A>C
ENST00000638568.2:c.2381A>C	ENSP00000491158.2:p.Glu794Ala
ENST00000639899.1:n.3197A>C
ENST00000640655.2:c.2381A>C	ENSP00000491596.2:p.Glu794Ala
ENST00000651160.1:c.*822A>C	ENSP00000498829.1:n.*822A>C
ENST00000651723.1:c.*2761A>C	ENSP00000498237.1:n.*2761A>C
ENST00000652016.1:c.*895A>C	ENSP00000498267.1:n.*895A>C
ENST00000378823.7:c.2678A>C	ENSP00000368100.4:p.Glu893Ala
ENST00000423956.5:c.*864A>C	ENSP00000390971.1:n.*864A>C
ENST00000533482.5:c.*2304A>C	ENSP00000431225.1:n.*2304A>C
NM_005732.3:c.2678A>C	NP_005723.2:p.Glu893Ala
NM_005732.4:c.2678A>C MANE Select	NP_005723.2:p.Glu893Ala