Canonical Allele Identifier: CA1583254632
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642280A= , CM000667.2:g.132642280A= GRCh38
NC_000005.9:g.131977972A= , CM000667.1:g.131977972A= GRCh37
NC_000005.8:g.132005871A= NCBI36
NG_021151.1:g.90357A=
NG_021151.2:g.90304A=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3855A= (RAD50) MANE Select ENSP00000368100.4:p.Lys1285=
ENST00000638452.2:c.3558A= ENSP00000492349.2:p.Lys1186=
ENST00000638504.1:n.3463A=
ENST00000638568.2:c.3558A= ENSP00000491158.2:p.Lys1186=
ENST00000639899.1:n.4374A=
ENST00000640655.2:c.3558A= ENSP00000491596.2:p.Lys1186=
ENST00000651249.1:c.691A= (RAD50)
ENST00000378823.7:c.3855A= (RAD50) ENSP00000368100.4:p.Lys1285=
ENST00000455677.1:c.388-725A= (RAD50)
ENST00000533482.5:c.*3481A= (RAD50) ENSP00000431225.1:n.*3481A=
NM_005732.3:c.3855A= (RAD50) NP_005723.2:p.Lys1285=
NR_132125.1:n.107T= (TH2LCRR)
NR_132126.1:n.175-4015T= (TH2LCRR)
NM_005732.4:c.3855A= (RAD50) MANE Select NP_005723.2:p.Lys1285=