Canonical Allele Identifier: CA3405546

Gene: RAD50

Linked Data

• ClinVar Variation Id: 233472
• ClinVar RCV Id: RCV000213459
• dbSNP Id: rs758983771
• ExAC: 5:131953857 A / G
• gnomAD v2: 5-131953857-A-G
• gnomAD v4: 5-132618165-A-G
• MyVariant Identifiers: chr5:g.131953857A>G (hg19) ; chr5:g.132618165A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618165A>G , CM000667.2:g.132618165A>G	GRCh38
NC_000005.9:g.131953857A>G , CM000667.1:g.131953857A>G	GRCh37
NC_000005.8:g.131981756A>G	NCBI36
NG_021151.1:g.66242A>G
NG_021151.2:g.66189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3260A>G MANE Select	ENSP00000368100.4:p.His1087Arg
ENST00000638452.2:c.2963A>G	ENSP00000492349.2:p.His988Arg
ENST00000638504.1:n.2868A>G
ENST00000638568.2:c.2963A>G	ENSP00000491158.2:p.His988Arg
ENST00000639899.1:n.3779A>G
ENST00000640655.2:c.2963A>G	ENSP00000491596.2:p.His988Arg
ENST00000651249.1:c.96A>G
ENST00000378823.7:c.3260A>G	ENSP00000368100.4:p.His1087Arg
ENST00000533482.5:c.*2886A>G	ENSP00000431225.1:n.*2886A>G
NM_005732.3:c.3260A>G	NP_005723.2:p.His1087Arg
NM_005732.4:c.3260A>G MANE Select	NP_005723.2:p.His1087Arg