Canonical Allele Identifier: CA360961089
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095840
ClinVar RCV Id: RCV003028078

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609389C>A , CM000667.2:g.132609389C>A GRCh38
NC_000005.9:g.131945081C>A , CM000667.1:g.131945081C>A GRCh37
NC_000005.8:g.131972980C>A NCBI36
NG_021151.1:g.57466C>A
NG_021151.2:g.57413C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3029C>A MANE Select ENSP00000368100.4:p.Thr1010Lys
ENST00000638452.2:c.2732C>A ENSP00000492349.2:p.Thr911Lys
ENST00000638504.1:n.2637C>A
ENST00000638568.2:c.2732C>A ENSP00000491158.2:p.Thr911Lys
ENST00000639899.1:n.3548C>A
ENST00000640655.2:c.2732C>A ENSP00000491596.2:p.Thr911Lys
ENST00000651723.1:c.*3112C>A ENSP00000498237.1:n.*3112C>A
ENST00000378823.7:c.3029C>A ENSP00000368100.4:p.Thr1010Lys
ENST00000533482.5:c.*2655C>A ENSP00000431225.1:n.*2655C>A
NM_005732.3:c.3029C>A NP_005723.2:p.Thr1010Lys
NM_005732.4:c.3029C>A MANE Select NP_005723.2:p.Thr1010Lys