Canonical Allele Identifier: CA3405539

Gene: RAD50

Linked Data

• ClinVar Variation Id: 240234
• ClinVar RCV Id: RCV000228148
• dbSNP Id: rs749322677
• ExAC: 5:131953790 G / A
• gnomAD v2: 5-131953790-G-A
• gnomAD v3: 5-132618098-G-A
• gnomAD v4: 5-132618098-G-A
• MyVariant Identifiers: chr5:g.131953790G>A (hg19) ; chr5:g.132618098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618098G>A , CM000667.2:g.132618098G>A	GRCh38
NC_000005.9:g.131953790G>A , CM000667.1:g.131953790G>A	GRCh37
NC_000005.8:g.131981689G>A	NCBI36
NG_021151.1:g.66175G>A
NG_021151.2:g.66122G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3193G>A MANE Select	ENSP00000368100.4:p.Asp1065Asn
ENST00000638452.2:c.2896G>A	ENSP00000492349.2:p.Asp966Asn
ENST00000638504.1:n.2801G>A
ENST00000638568.2:c.2896G>A	ENSP00000491158.2:p.Asp966Asn
ENST00000639899.1:n.3712G>A
ENST00000640655.2:c.2896G>A	ENSP00000491596.2:p.Asp966Asn
ENST00000651249.1:c.29G>A
ENST00000378823.7:c.3193G>A	ENSP00000368100.4:p.Asp1065Asn
ENST00000533482.5:c.*2819G>A	ENSP00000431225.1:n.*2819G>A
NM_005732.3:c.3193G>A	NP_005723.2:p.Asp1065Asn
NM_005732.4:c.3193G>A MANE Select	NP_005723.2:p.Asp1065Asn