Canonical Allele Identifier: CA127237716

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs991645790
• MyVariant Identifiers: chr5:g.131977047T>C (hg19) ; chr5:g.132641355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132641355T>C , CM000667.2:g.132641355T>C	GRCh38
NC_000005.9:g.131977047T>C , CM000667.1:g.131977047T>C	GRCh37
NC_000005.8:g.132004946T>C	NCBI36
NG_021151.1:g.89432T>C
NG_021151.2:g.89379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3752+550T>C (RAD50) MANE Select	ENSP00000368100.4:n.3752+550T>C
ENST00000638452.2:c.3455+550T>C	ENSP00000492349.2:n.3455+550T>C
ENST00000638504.1:n.3360+550T>C
ENST00000638568.2:c.3455+550T>C	ENSP00000491158.2:n.3455+550T>C
ENST00000639899.1:n.4271+550T>C
ENST00000640655.2:c.3455+550T>C	ENSP00000491596.2:n.3455+550T>C
ENST00000651249.1:c.588+550T>C (RAD50)
ENST00000378823.7:c.3752+550T>C (RAD50)	ENSP00000368100.4:n.3752+550T>C
ENST00000455677.1:c.387+550T>C (RAD50)
ENST00000533482.5:c.*3378+550T>C (RAD50)	ENSP00000431225.1:n.*3378+550T>C
NM_005732.3:c.3752+550T>C (RAD50)	NP_005723.2:n.3752+550T>C
NR_132124.1:n.45+391A>G (TH2LCRR)
NR_132125.1:n.189+843A>G (TH2LCRR)
NR_132126.1:n.175-3090A>G (TH2LCRR)
XR_427771.1:n.426+391A>G (TH2LCRR)
NM_005732.4:c.3752+550T>C (RAD50) MANE Select	NP_005723.2:n.3752+550T>C