Canonical Allele Identifier: CA360936904

Gene: RAD50 TH2LCRR

Linked Data

• MyVariant Identifiers: chr5:g.131977969G>C (hg19) ; chr5:g.132642277G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642277G>C , CM000667.2:g.132642277G>C	GRCh38
NC_000005.9:g.131977969G>C , CM000667.1:g.131977969G>C	GRCh37
NC_000005.8:g.132005868G>C	NCBI36
NG_021151.1:g.90354G>C
NG_021151.2:g.90301G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3852G>C (RAD50) MANE Select	ENSP00000368100.4:p.Glu1284Asp
ENST00000638452.2:c.3555G>C	ENSP00000492349.2:p.Glu1185Asp
ENST00000638504.1:n.3460G>C
ENST00000638568.2:c.3555G>C	ENSP00000491158.2:p.Glu1185Asp
ENST00000639899.1:n.4371G>C
ENST00000640655.2:c.3555G>C	ENSP00000491596.2:p.Glu1185Asp
ENST00000651249.1:c.688G>C (RAD50)
ENST00000378823.7:c.3852G>C (RAD50)	ENSP00000368100.4:p.Glu1284Asp
ENST00000455677.1:c.388-728G>C (RAD50)
ENST00000533482.5:c.*3478G>C (RAD50)	ENSP00000431225.1:n.*3478G>C
NM_005732.3:c.3852G>C (RAD50)	NP_005723.2:p.Glu1284Asp
NR_132125.1:n.110C>G (TH2LCRR)
NR_132126.1:n.175-4012C>G (TH2LCRR)
NM_005732.4:c.3852G>C (RAD50) MANE Select	NP_005723.2:p.Glu1284Asp