Canonical Allele Identifier: CA562777866

Gene: RAD50

Linked Data

• dbSNP Id: rs1013990942
• gnomAD v2: 5-131953691-C-A
• gnomAD v3: 5-132617999-C-A
• gnomAD v4: 5-132617999-C-A
• MyVariant Identifiers: chr5:g.131953691C>A (hg19) ; chr5:g.132617999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132617999C>A , CM000667.2:g.132617999C>A	GRCh38
NC_000005.9:g.131953691C>A , CM000667.1:g.131953691C>A	GRCh37
NC_000005.8:g.131981590C>A	NCBI36
NG_021151.1:g.66076C>A
NG_021151.2:g.66023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3165-71C>A MANE Select	ENSP00000368100.4:n.3165-71C>A
ENST00000638452.2:c.2868-71C>A	ENSP00000492349.2:n.2868-71C>A
ENST00000638504.1:n.2773-71C>A
ENST00000638568.2:c.2868-71C>A	ENSP00000491158.2:n.2868-71C>A
ENST00000639899.1:n.3684-71C>A
ENST00000640655.2:c.2868-71C>A	ENSP00000491596.2:n.2868-71C>A
ENST00000378823.7:c.3165-71C>A	ENSP00000368100.4:n.3165-71C>A
ENST00000533482.5:c.*2791-71C>A	ENSP00000431225.1:n.*2791-71C>A
NM_005732.3:c.3165-71C>A	NP_005723.2:n.3165-71C>A
NM_005732.4:c.3165-71C>A MANE Select	NP_005723.2:n.3165-71C>A