Canonical Allele Identifier: CA360956742

Gene: RAD50

Linked Data

• ClinVar Variation Id: 998621
• ClinVar RCV Id: RCV001294507
• dbSNP Id: rs1750957514
• MyVariant Identifiers: chr5:g.131940627A>G (hg19) ; chr5:g.132604935A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604935A>G , CM000667.2:g.132604935A>G	GRCh38
NC_000005.9:g.131940627A>G , CM000667.1:g.131940627A>G	GRCh37
NC_000005.8:g.131968526A>G	NCBI36
NG_021151.1:g.53012A>G
NG_021151.2:g.52959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2654A>G MANE Select	ENSP00000368100.4:p.Gln885Arg
ENST00000638452.2:c.2357A>G	ENSP00000492349.2:p.Gln786Arg
ENST00000638504.1:n.2262A>G
ENST00000638568.2:c.2357A>G	ENSP00000491158.2:p.Gln786Arg
ENST00000639899.1:n.3173A>G
ENST00000640655.2:c.2357A>G	ENSP00000491596.2:p.Gln786Arg
ENST00000651160.1:c.*798A>G	ENSP00000498829.1:n.*798A>G
ENST00000651723.1:c.*2737A>G	ENSP00000498237.1:n.*2737A>G
ENST00000652016.1:c.*871A>G	ENSP00000498267.1:n.*871A>G
ENST00000378823.7:c.2654A>G	ENSP00000368100.4:p.Gln885Arg
ENST00000423956.5:c.*840A>G	ENSP00000390971.1:n.*840A>G
ENST00000533482.5:c.*2280A>G	ENSP00000431225.1:n.*2280A>G
NM_005732.3:c.2654A>G	NP_005723.2:p.Gln885Arg
NM_005732.4:c.2654A>G MANE Select	NP_005723.2:p.Gln885Arg