Canonical Allele Identifier: CA193746

Gene: RAD50

Linked Data

• ClinVar Variation Id: 186055
• ClinVar RCV Id: RCV000165579
• dbSNP Id: rs757836195
• ExAC: 5:131924382 G / A
• gnomAD v2: 5-131924382-G-A
• gnomAD v3: 5-132588690-G-A
• gnomAD v4: 5-132588690-G-A
• MyVariant Identifiers: chr5:g.131924382G>A (hg19) ; chr5:g.132588690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588690G>A , CM000667.2:g.132588690G>A	GRCh38
NC_000005.9:g.131924382G>A , CM000667.1:g.131924382G>A	GRCh37
NC_000005.8:g.131952281G>A	NCBI36
NG_021151.1:g.36767G>A
NG_021151.2:g.36714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1055G>A MANE Select	ENSP00000368100.4:p.Arg352His
ENST00000638452.2:c.758G>A	ENSP00000492349.2:p.Arg253His
ENST00000638504.1:n.741G>A
ENST00000638568.2:c.758G>A	ENSP00000491158.2:p.Arg253His
ENST00000639899.1:n.1574G>A
ENST00000640655.2:c.758G>A	ENSP00000491596.2:p.Arg253His
ENST00000651160.1:c.1055G>A	ENSP00000498829.1:p.Arg352His
ENST00000651541.1:c.758G>A	ENSP00000498795.1:p.Arg253His
ENST00000651658.1:n.1482G>A
ENST00000651723.1:c.*1138G>A	ENSP00000498237.1:n.*1138G>A
ENST00000652016.1:c.1055G>A	ENSP00000498267.1:p.Arg352His
ENST00000652485.1:c.1055G>A	ENSP00000498973.1:p.Arg352His
ENST00000378823.7:c.1055G>A	ENSP00000368100.4:p.Arg352His
ENST00000423956.5:c.1055G>A	ENSP00000390971.1:p.Arg352His
ENST00000453394.5:c.1055G>A	ENSP00000400049.1:p.Arg352His
ENST00000487596.1:n.621G>A
ENST00000533482.5:c.*681G>A	ENSP00000431225.1:n.*681G>A
NM_005732.3:c.1055G>A	NP_005723.2:p.Arg352His
NM_005732.4:c.1055G>A MANE Select	NP_005723.2:p.Arg352His