Canonical Allele Identifier: CA10578593

Gene: RAD50

Linked Data

• ClinVar Variation Id: 232263
• ClinVar RCV Id: RCV000218777
• dbSNP Id: rs876659658
• gnomAD v4: 5-132618087-A-G
• MyVariant Identifiers: chr5:g.131953779A>G (hg19) ; chr5:g.132618087A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618087A>G , CM000667.2:g.132618087A>G	GRCh38
NC_000005.9:g.131953779A>G , CM000667.1:g.131953779A>G	GRCh37
NC_000005.8:g.131981678A>G	NCBI36
NG_021151.1:g.66164A>G
NG_021151.2:g.66111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3182A>G MANE Select	ENSP00000368100.4:p.Glu1061Gly
ENST00000638452.2:c.2885A>G	ENSP00000492349.2:p.Glu962Gly
ENST00000638504.1:n.2790A>G
ENST00000638568.2:c.2885A>G	ENSP00000491158.2:p.Glu962Gly
ENST00000639899.1:n.3701A>G
ENST00000640655.2:c.2885A>G	ENSP00000491596.2:p.Glu962Gly
ENST00000651249.1:c.18A>G
ENST00000378823.7:c.3182A>G	ENSP00000368100.4:p.Glu1061Gly
ENST00000533482.5:c.*2808A>G	ENSP00000431225.1:n.*2808A>G
NM_005732.3:c.3182A>G	NP_005723.2:p.Glu1061Gly
NM_005732.4:c.3182A>G MANE Select	NP_005723.2:p.Glu1061Gly