Canonical Allele Identifier: CA1081664081

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1019992254
• gnomAD v3: 5-132642401-C-A
• gnomAD v4: 5-132642401-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642401C>A , CM000667.2:g.132642401C>A	GRCh38
NC_000005.9:g.131978093C>A , CM000667.1:g.131978093C>A	GRCh37
NC_000005.8:g.132005992C>A	NCBI36
NG_021151.1:g.90478C>A
NG_021151.2:g.90425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.*37C>A (RAD50) MANE Select	ENSP00000368100.4:n.*37C>A
ENST00000638452.2:c.*37C>A	ENSP00000492349.2:n.*37C>A
ENST00000638504.1:n.3584C>A
ENST00000638568.2:c.*37C>A	ENSP00000491158.2:n.*37C>A
ENST00000639899.1:n.4495C>A
ENST00000640655.2:c.*37C>A	ENSP00000491596.2:n.*37C>A
ENST00000651249.1:c.805+7C>A (RAD50)
ENST00000378823.7:c.*37C>A (RAD50)	ENSP00000368100.4:n.*37C>A
ENST00000455677.1:c.388-604C>A (RAD50)
ENST00000533482.5:c.*3602C>A (RAD50)	ENSP00000431225.1:n.*3602C>A
NM_005732.3:c.*37C>A (RAD50)	NP_005723.2:n.*37C>A
NR_132125.1:n.105-119G>T (TH2LCRR)
NR_132126.1:n.175-4136G>T (TH2LCRR)
NM_005732.4:c.*37C>A (RAD50) MANE Select	NP_005723.2:n.*37C>A