Canonical Allele Identifier: CA3405480

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1576597
• ClinVar RCV Id: RCV002078429
• dbSNP Id: rs760768068
• ExAC: 5:131944916 A / C
• gnomAD v2: 5-131944916-A-C
• gnomAD v4: 5-132609224-A-C
• MyVariant Identifiers: chr5:g.131944916A>C (hg19) ; chr5:g.132609224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609224A>C , CM000667.2:g.132609224A>C	GRCh38
NC_000005.9:g.131944916A>C , CM000667.1:g.131944916A>C	GRCh37
NC_000005.8:g.131972815A>C	NCBI36
NG_021151.1:g.57301A>C
NG_021151.2:g.57248A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2922+15A>C MANE Select	ENSP00000368100.4:n.2922+15A>C
ENST00000638452.2:c.2625+15A>C	ENSP00000492349.2:n.2625+15A>C
ENST00000638504.1:n.2530+15A>C
ENST00000638568.2:c.2625+15A>C	ENSP00000491158.2:n.2625+15A>C
ENST00000639899.1:n.3441+15A>C
ENST00000640655.2:c.2625+15A>C	ENSP00000491596.2:n.2625+15A>C
ENST00000651160.1:c.*1066+15A>C	ENSP00000498829.1:n.*1066+15A>C
ENST00000651723.1:c.*3005+15A>C	ENSP00000498237.1:n.*3005+15A>C
ENST00000378823.7:c.2922+15A>C	ENSP00000368100.4:n.2922+15A>C
ENST00000423956.5:c.*1108+15A>C	ENSP00000390971.1:n.*1108+15A>C
ENST00000533482.5:c.*2548+15A>C	ENSP00000431225.1:n.*2548+15A>C
NM_005732.3:c.2922+15A>C	NP_005723.2:n.2922+15A>C
NM_005732.4:c.2922+15A>C MANE Select	NP_005723.2:n.2922+15A>C