Canonical Allele Identifier: CA190352

Gene: RAD50 TH2LCRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132638203C>T , CM000667.2:g.132638203C>T	GRCh38
NC_000005.9:g.131973895C>T , CM000667.1:g.131973895C>T	GRCh37
NC_000005.8:g.132001794C>T	NCBI36
NG_021151.1:g.86280C>T
NG_021151.2:g.86227C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005732.4:c.3598C>T (RAD50) MANE Select	NP_005723.2:p.Arg1200Ter
ENST00000378823.8:c.3598C>T (RAD50) MANE Select	ENSP00000368100.4:p.Arg1200Ter
NM_005732.3:c.3598C>T (RAD50)	NP_005723.2:p.Arg1200Ter
NR_132124.1:n.108G>A (TH2LCRR)
NR_132125.1:n.252G>A (TH2LCRR)
NR_132126.1:n.237G>A (TH2LCRR)
ENST00000378823.7:c.3598C>T (RAD50)	ENSP00000368100.4:p.Arg1200Ter
ENST00000455677.1:c.233C>T (RAD50)
ENST00000533482.5:c.*3224C>T (RAD50)	ENSP00000431225.1:n.*3224C>T
ENST00000638452.2:c.3301C>T	ENSP00000492349.2:p.Arg1101Ter
ENST00000638504.1:n.3206C>T
ENST00000638568.2:c.3301C>T	ENSP00000491158.2:p.Arg1101Ter
ENST00000639899.1:n.4117C>T
ENST00000640655.2:c.3301C>T	ENSP00000491596.2:p.Arg1101Ter
ENST00000651249.1:c.434C>T (RAD50)
XR_427771.1:n.489G>A (TH2LCRR)