Canonical Allele Identifier: CA360960090
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609211T>G , CM000667.2:g.132609211T>G GRCh38
NC_000005.9:g.131944903T>G , CM000667.1:g.131944903T>G GRCh37
NC_000005.8:g.131972802T>G NCBI36
NG_021151.1:g.57288T>G
NG_021151.2:g.57235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2922+2T>G MANE Select ENSP00000368100.4:n.2922+2T>G
ENST00000638452.2:c.2625+2T>G ENSP00000492349.2:n.2625+2T>G
ENST00000638504.1:n.2530+2T>G
ENST00000638568.2:c.2625+2T>G ENSP00000491158.2:n.2625+2T>G
ENST00000639899.1:n.3441+2T>G
ENST00000640655.2:c.2625+2T>G ENSP00000491596.2:n.2625+2T>G
ENST00000651160.1:c.*1066+2T>G ENSP00000498829.1:n.*1066+2T>G
ENST00000651723.1:c.*3005+2T>G ENSP00000498237.1:n.*3005+2T>G
ENST00000378823.7:c.2922+2T>G ENSP00000368100.4:n.2922+2T>G
ENST00000423956.5:c.*1108+2T>G ENSP00000390971.1:n.*1108+2T>G
ENST00000533482.5:c.*2548+2T>G ENSP00000431225.1:n.*2548+2T>G
NM_005732.3:c.2922+2T>G NP_005723.2:n.2922+2T>G
NM_005732.4:c.2922+2T>G MANE Select NP_005723.2:n.2922+2T>G