Canonical Allele Identifier: CA3405280

Gene: RAD50

Linked Data

• ClinVar Variation Id: 408377
• ClinVar RCV Id: RCV000467180 ; RCV003477956
• dbSNP Id: rs769987307
• ExAC: 5:131930582 G / C
• gnomAD v2: 5-131930582-G-C
• gnomAD v4: 5-132594890-G-C
• MyVariant Identifiers: chr5:g.131930582G>C (hg19) ; chr5:g.132594890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594890G>C , CM000667.2:g.132594890G>C	GRCh38
NC_000005.9:g.131930582G>C , CM000667.1:g.131930582G>C	GRCh37
NC_000005.8:g.131958481G>C	NCBI36
NG_021151.1:g.42967G>C
NG_021151.2:g.42914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1815G>C MANE Select	ENSP00000368100.4:p.Glu605Asp
ENST00000638452.2:c.1518G>C	ENSP00000492349.2:p.Glu506Asp
ENST00000638504.1:n.1480-214G>C
ENST00000638568.2:c.1518G>C	ENSP00000491158.2:p.Glu506Asp
ENST00000639899.1:n.2334G>C
ENST00000640655.2:c.1518G>C	ENSP00000491596.2:p.Glu506Asp
ENST00000651160.1:c.*16-214G>C	ENSP00000498829.1:n.*16-214G>C
ENST00000651658.1:n.2358G>C
ENST00000651723.1:c.*1898G>C	ENSP00000498237.1:n.*1898G>C
ENST00000652016.1:c.*89-214G>C	ENSP00000498267.1:n.*89-214G>C
ENST00000652485.1:c.1848G>C	ENSP00000498973.1:p.Glu616Asp
ENST00000378823.7:c.1815G>C	ENSP00000368100.4:p.Glu605Asp
ENST00000423956.5:c.*1G>C	ENSP00000390971.1:n.*1G>C
ENST00000453394.5:c.1632G>C	ENSP00000400049.1:p.Glu544Asp
ENST00000533482.5:c.*1441G>C	ENSP00000431225.1:n.*1441G>C
NM_005732.3:c.1815G>C	NP_005723.2:p.Glu605Asp
NM_005732.4:c.1815G>C MANE Select	NP_005723.2:p.Glu605Asp