Canonical Allele Identifier: CA2573138993

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1347766
• ClinVar RCV Id: RCV002043984
• dbSNP Id: rs1751042239

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609278T>G , CM000667.2:g.132609278T>G	GRCh38
NC_000005.9:g.131944970T>G , CM000667.1:g.131944970T>G	GRCh37
NC_000005.8:g.131972869T>G	NCBI36
NG_021151.1:g.57355T>G
NG_021151.2:g.57302T>G

Transcript Alleles

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