Canonical Allele Identifier: CA360964283

Gene: RAD50

Linked Data

• ClinVar Variation Id: 641639
• ClinVar RCV Id: RCV000794920
• dbSNP Id: rs1581009380
• gnomAD v4: 5-132618099-A-G
• MyVariant Identifiers: chr5:g.131953791A>G (hg19) ; chr5:g.132618099A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618099A>G , CM000667.2:g.132618099A>G	GRCh38
NC_000005.9:g.131953791A>G , CM000667.1:g.131953791A>G	GRCh37
NC_000005.8:g.131981690A>G	NCBI36
NG_021151.1:g.66176A>G
NG_021151.2:g.66123A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3194A>G MANE Select	ENSP00000368100.4:p.Asp1065Gly
ENST00000638452.2:c.2897A>G	ENSP00000492349.2:p.Asp966Gly
ENST00000638504.1:n.2802A>G
ENST00000638568.2:c.2897A>G	ENSP00000491158.2:p.Asp966Gly
ENST00000639899.1:n.3713A>G
ENST00000640655.2:c.2897A>G	ENSP00000491596.2:p.Asp966Gly
ENST00000651249.1:c.30A>G
ENST00000378823.7:c.3194A>G	ENSP00000368100.4:p.Asp1065Gly
ENST00000533482.5:c.*2820A>G	ENSP00000431225.1:n.*2820A>G
NM_005732.3:c.3194A>G	NP_005723.2:p.Asp1065Gly
NM_005732.4:c.3194A>G MANE Select	NP_005723.2:p.Asp1065Gly