Canonical Allele Identifier: CA1081663582

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1751717552
• gnomAD v3: 5-132641391-T-G
• gnomAD v4: 5-132641391-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132641391T>G , CM000667.2:g.132641391T>G	GRCh38
NC_000005.9:g.131977083T>G , CM000667.1:g.131977083T>G	GRCh37
NC_000005.8:g.132004982T>G	NCBI36
NG_021151.1:g.89468T>G
NG_021151.2:g.89415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3752+586T>G (RAD50) MANE Select	ENSP00000368100.4:n.3752+586T>G
ENST00000638452.2:c.3455+586T>G	ENSP00000492349.2:n.3455+586T>G
ENST00000638504.1:n.3360+586T>G
ENST00000638568.2:c.3455+586T>G	ENSP00000491158.2:n.3455+586T>G
ENST00000639899.1:n.4271+586T>G
ENST00000640655.2:c.3455+586T>G	ENSP00000491596.2:n.3455+586T>G
ENST00000651249.1:c.588+586T>G (RAD50)
ENST00000378823.7:c.3752+586T>G (RAD50)	ENSP00000368100.4:n.3752+586T>G
ENST00000455677.1:c.387+586T>G (RAD50)
ENST00000533482.5:c.*3378+586T>G (RAD50)	ENSP00000431225.1:n.*3378+586T>G
NM_005732.3:c.3752+586T>G (RAD50)	NP_005723.2:n.3752+586T>G
NR_132124.1:n.45+355A>C (TH2LCRR)
NR_132125.1:n.189+807A>C (TH2LCRR)
NR_132126.1:n.175-3126A>C (TH2LCRR)
XR_427771.1:n.426+355A>C (TH2LCRR)
NM_005732.4:c.3752+586T>G (RAD50) MANE Select	NP_005723.2:n.3752+586T>G