Canonical Allele Identifier: CA360930385

Gene: RAD50 TH2LCRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132637179C>G , CM000667.2:g.132637179C>G	GRCh38
NC_000005.9:g.131972871C>G , CM000667.1:g.131972871C>G	GRCh37
NC_000005.8:g.132000770C>G	NCBI36
NG_021151.1:g.85256C>G
NG_021151.2:g.85203C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005732.4:c.3454C>G (RAD50) MANE Select	NP_005723.2:p.Arg1152Gly
ENST00000378823.8:c.3454C>G (RAD50) MANE Select	ENSP00000368100.4:p.Arg1152Gly
NM_005732.3:c.3454C>G (RAD50)	NP_005723.2:p.Arg1152Gly
NR_132124.1:n.153+979G>C (TH2LCRR)
ENST00000378823.7:c.3454C>G (RAD50)	ENSP00000368100.4:p.Arg1152Gly
ENST00000455677.1:c.89C>G (RAD50)
ENST00000533482.5:c.*3080C>G (RAD50)	ENSP00000431225.1:n.*3080C>G
ENST00000638452.2:c.3157C>G	ENSP00000492349.2:p.Arg1053Gly
ENST00000638504.1:n.3062C>G
ENST00000638568.2:c.3157C>G	ENSP00000491158.2:p.Arg1053Gly
ENST00000639899.1:n.3973C>G
ENST00000640655.2:c.3157C>G	ENSP00000491596.2:p.Arg1053Gly
ENST00000651249.1:c.290C>G (RAD50)