Canonical Allele Identifier: CA360956501

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2088790
• ClinVar RCV Id: RCV003011817
• MyVariant Identifiers: chr5:g.131940570C>A (hg19) ; chr5:g.132604878C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604878C>A , CM000667.2:g.132604878C>A	GRCh38
NC_000005.9:g.131940570C>A , CM000667.1:g.131940570C>A	GRCh37
NC_000005.8:g.131968469C>A	NCBI36
NG_021151.1:g.52955C>A
NG_021151.2:g.52902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2597C>A MANE Select	ENSP00000368100.4:p.Thr866Lys
ENST00000638452.2:c.2300C>A	ENSP00000492349.2:p.Thr767Lys
ENST00000638504.1:n.2205C>A
ENST00000638568.2:c.2300C>A	ENSP00000491158.2:p.Thr767Lys
ENST00000639899.1:n.3116C>A
ENST00000640655.2:c.2300C>A	ENSP00000491596.2:p.Thr767Lys
ENST00000651160.1:c.*741C>A	ENSP00000498829.1:n.*741C>A
ENST00000651723.1:c.*2680C>A	ENSP00000498237.1:n.*2680C>A
ENST00000652016.1:c.*814C>A	ENSP00000498267.1:n.*814C>A
ENST00000652485.1:c.2630C>A	ENSP00000498973.1:p.Thr877Lys
ENST00000378823.7:c.2597C>A	ENSP00000368100.4:p.Thr866Lys
ENST00000423956.5:c.*783C>A	ENSP00000390971.1:n.*783C>A
ENST00000533482.5:c.*2223C>A	ENSP00000431225.1:n.*2223C>A
NM_005732.3:c.2597C>A	NP_005723.2:p.Thr866Lys
NM_005732.4:c.2597C>A MANE Select	NP_005723.2:p.Thr866Lys