Canonical Allele Identifier: CA2573138989

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1661259
• ClinVar RCV Id: RCV002190869
• dbSNP Id: rs764146025

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609266A>G , CM000667.2:g.132609266A>G	GRCh38
NC_000005.9:g.131944958A>G , CM000667.1:g.131944958A>G	GRCh37
NC_000005.8:g.131972857A>G	NCBI36
NG_021151.1:g.57343A>G
NG_021151.2:g.57290A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2923-17A>G MANE Select	ENSP00000368100.4:n.2923-17A>G
ENST00000638452.2:c.2626-17A>G	ENSP00000492349.2:n.2626-17A>G
ENST00000638504.1:n.2531-17A>G
ENST00000638568.2:c.2626-17A>G	ENSP00000491158.2:n.2626-17A>G
ENST00000639899.1:n.3442-17A>G
ENST00000640655.2:c.2626-17A>G	ENSP00000491596.2:n.2626-17A>G
ENST00000651160.1:c.*1067-17A>G	ENSP00000498829.1:n.*1067-17A>G
ENST00000651723.1:c.*3006-17A>G	ENSP00000498237.1:n.*3006-17A>G
ENST00000378823.7:c.2923-17A>G	ENSP00000368100.4:n.2923-17A>G
ENST00000423956.5:c.*1109-17A>G	ENSP00000390971.1:n.*1109-17A>G
ENST00000533482.5:c.*2549-17A>G	ENSP00000431225.1:n.*2549-17A>G
NM_005732.3:c.2923-17A>G	NP_005723.2:n.2923-17A>G
NM_005732.4:c.2923-17A>G MANE Select	NP_005723.2:n.2923-17A>G