Canonical Allele Identifier: CA1081651297

Gene: RAD50

Linked Data

• dbSNP Id: rs1751218644
• gnomAD v3: 5-132618463-C-G
• gnomAD v4: 5-132618463-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618463C>G , CM000667.2:g.132618463C>G	GRCh38
NC_000005.9:g.131954155C>G , CM000667.1:g.131954155C>G	GRCh37
NC_000005.8:g.131982054C>G	NCBI36
NG_021151.1:g.66540C>G
NG_021151.2:g.66487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+169C>G MANE Select	ENSP00000368100.4:n.3389+169C>G
ENST00000638452.2:c.3092+169C>G	ENSP00000492349.2:n.3092+169C>G
ENST00000638504.1:n.2997+169C>G
ENST00000638568.2:c.3092+169C>G	ENSP00000491158.2:n.3092+169C>G
ENST00000639899.1:n.3908+169C>G
ENST00000640655.2:c.3092+169C>G	ENSP00000491596.2:n.3092+169C>G
ENST00000651249.1:c.225+169C>G
ENST00000378823.7:c.3389+169C>G	ENSP00000368100.4:n.3389+169C>G
ENST00000455677.1:c.24+169C>G
ENST00000533482.5:c.*3015+169C>G	ENSP00000431225.1:n.*3015+169C>G
NM_005732.3:c.3389+169C>G	NP_005723.2:n.3389+169C>G
NM_005732.4:c.3389+169C>G MANE Select	NP_005723.2:n.3389+169C>G