Canonical Allele Identifier: CA127238463

Gene: RAD50 TH2LCRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642309A>G , CM000667.2:g.132642309A>G	GRCh38
NC_000005.9:g.131978001A>G , CM000667.1:g.131978001A>G	GRCh37
NC_000005.8:g.132005900A>G	NCBI36
NG_021151.1:g.90386A>G
NG_021151.2:g.90333A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005732.4:c.3884A>G (RAD50) MANE Select	NP_005723.2:p.Gln1295Arg
ENST00000378823.8:c.3884A>G (RAD50) MANE Select	ENSP00000368100.4:p.Gln1295Arg
NM_005732.3:c.3884A>G (RAD50)	NP_005723.2:p.Gln1295Arg
NR_132125.1:n.105-27T>C (TH2LCRR)
NR_132126.1:n.175-4044T>C (TH2LCRR)
ENST00000378823.7:c.3884A>G (RAD50)	ENSP00000368100.4:p.Gln1295Arg
ENST00000455677.1:c.388-696A>G (RAD50)
ENST00000533482.5:c.*3510A>G (RAD50)	ENSP00000431225.1:n.*3510A>G
ENST00000638452.2:c.3587A>G	ENSP00000492349.2:p.Gln1196Arg
ENST00000638504.1:n.3492A>G
ENST00000638568.2:c.3587A>G	ENSP00000491158.2:p.Gln1196Arg
ENST00000639899.1:n.4403A>G
ENST00000640655.2:c.3587A>G	ENSP00000491596.2:p.Gln1196Arg
ENST00000651249.1:c.720A>G (RAD50)