Canonical Allele Identifier: CA360964198

Gene: RAD50

Linked Data

• ClinVar Variation Id: 639645
• ClinVar RCV Id: RCV000792493
• dbSNP Id: rs1581009345
• MyVariant Identifiers: chr5:g.131953769C>G (hg19) ; chr5:g.132618077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618077C>G , CM000667.2:g.132618077C>G	GRCh38
NC_000005.9:g.131953769C>G , CM000667.1:g.131953769C>G	GRCh37
NC_000005.8:g.131981668C>G	NCBI36
NG_021151.1:g.66154C>G
NG_021151.2:g.66101C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3172C>G MANE Select	ENSP00000368100.4:p.Gln1058Glu
ENST00000638452.2:c.2875C>G	ENSP00000492349.2:p.Gln959Glu
ENST00000638504.1:n.2780C>G
ENST00000638568.2:c.2875C>G	ENSP00000491158.2:p.Gln959Glu
ENST00000639899.1:n.3691C>G
ENST00000640655.2:c.2875C>G	ENSP00000491596.2:p.Gln959Glu
ENST00000651249.1:c.8C>G
ENST00000378823.7:c.3172C>G	ENSP00000368100.4:p.Gln1058Glu
ENST00000533482.5:c.*2798C>G	ENSP00000431225.1:n.*2798C>G
NM_005732.3:c.3172C>G	NP_005723.2:p.Gln1058Glu
NM_005732.4:c.3172C>G MANE Select	NP_005723.2:p.Gln1058Glu