Canonical Allele Identifier: CA2549744018

Gene: RAD50 TH2LCRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132641346A>G , CM000667.2:g.132641346A>G	GRCh38
NC_000005.9:g.131977038A>G , CM000667.1:g.131977038A>G	GRCh37
NC_000005.8:g.132004937A>G	NCBI36
NG_021151.1:g.89423A>G
NG_021151.2:g.89370A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3752+541A>G (RAD50) MANE Select	ENSP00000368100.4:n.3752+541A>G
ENST00000638452.2:c.3455+541A>G	ENSP00000492349.2:n.3455+541A>G
ENST00000638504.1:n.3360+541A>G
ENST00000638568.2:c.3455+541A>G	ENSP00000491158.2:n.3455+541A>G
ENST00000639899.1:n.4271+541A>G
ENST00000640655.2:c.3455+541A>G	ENSP00000491596.2:n.3455+541A>G
ENST00000651249.1:c.588+541A>G (RAD50)
ENST00000378823.7:c.3752+541A>G (RAD50)	ENSP00000368100.4:n.3752+541A>G
ENST00000455677.1:c.387+541A>G (RAD50)
ENST00000533482.5:c.*3378+541A>G (RAD50)	ENSP00000431225.1:n.*3378+541A>G
NM_005732.3:c.3752+541A>G (RAD50)	NP_005723.2:n.3752+541A>G
NR_132124.1:n.45+400T>C (TH2LCRR)
NR_132125.1:n.189+852T>C (TH2LCRR)
NR_132126.1:n.175-3081T>C (TH2LCRR)
XR_427771.1:n.426+400T>C (TH2LCRR)
NM_005732.4:c.3752+541A>G (RAD50) MANE Select	NP_005723.2:n.3752+541A>G