Canonical Allele Identifier: CA1081664070

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1751747467
• gnomAD v3: 5-132642369-A-G
• gnomAD v4: 5-132642369-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642369A>G , CM000667.2:g.132642369A>G	GRCh38
NC_000005.9:g.131978061A>G , CM000667.1:g.131978061A>G	GRCh37
NC_000005.8:g.132005960A>G	NCBI36
NG_021151.1:g.90446A>G
NG_021151.2:g.90393A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.*5A>G (RAD50) MANE Select	ENSP00000368100.4:n.*5A>G
ENST00000638452.2:c.*5A>G	ENSP00000492349.2:n.*5A>G
ENST00000638504.1:n.3552A>G
ENST00000638568.2:c.*5A>G	ENSP00000491158.2:n.*5A>G
ENST00000639899.1:n.4463A>G
ENST00000640655.2:c.*5A>G	ENSP00000491596.2:n.*5A>G
ENST00000651249.1:c.780A>G (RAD50)
ENST00000378823.7:c.*5A>G (RAD50)	ENSP00000368100.4:n.*5A>G
ENST00000455677.1:c.388-636A>G (RAD50)
ENST00000533482.5:c.*3570A>G (RAD50)	ENSP00000431225.1:n.*3570A>G
NM_005732.3:c.*5A>G (RAD50)	NP_005723.2:n.*5A>G
NR_132125.1:n.105-87T>C (TH2LCRR)
NR_132126.1:n.175-4104T>C (TH2LCRR)
NM_005732.4:c.*5A>G (RAD50) MANE Select	NP_005723.2:n.*5A>G