Canonical Allele Identifier: CA360946263

Gene: RAD50

Linked Data

• ClinVar Variation Id: 945424
• ClinVar RCV Id: RCV001216061
• dbSNP Id: rs1750705894
• COSMIC: COSM4449058 ; COSM4449059
• MyVariant Identifiers: chr5:g.131927568G>A (hg19) ; chr5:g.132591876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591876G>A , CM000667.2:g.132591876G>A	GRCh38
NC_000005.9:g.131927568G>A , CM000667.1:g.131927568G>A	GRCh37
NC_000005.8:g.131955467G>A	NCBI36
NG_021151.1:g.39953G>A
NG_021151.2:g.39900G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1636-1G>A MANE Select	ENSP00000368100.4:n.1636-1G>A
ENST00000638452.2:c.1339-1G>A	ENSP00000492349.2:n.1339-1G>A
ENST00000638504.1:n.1322-1G>A
ENST00000638568.2:c.1339-1G>A	ENSP00000491158.2:n.1339-1G>A
ENST00000639899.1:n.2155-1G>A
ENST00000640655.2:c.1339-1G>A	ENSP00000491596.2:n.1339-1G>A
ENST00000651160.1:c.1636-1G>A	ENSP00000498829.1:n.1636-1G>A
ENST00000651541.1:c.1339-1G>A	ENSP00000498795.1:n.1339-1G>A
ENST00000651658.1:n.2063-1G>A
ENST00000651723.1:c.*1719-1G>A	ENSP00000498237.1:n.*1719-1G>A
ENST00000652016.1:c.1636-1G>A	ENSP00000498267.1:n.1636-1G>A
ENST00000652485.1:c.1669-1G>A	ENSP00000498973.1:n.1669-1G>A
ENST00000378823.7:c.1636-1G>A	ENSP00000368100.4:n.1636-1G>A
ENST00000423956.5:c.1635+470G>A	ENSP00000390971.1:n.1635+470G>A
ENST00000434288.1:c.131-1G>A
ENST00000453394.5:c.1453-1G>A	ENSP00000400049.1:n.1453-1G>A
ENST00000533482.5:c.*1262-1G>A	ENSP00000431225.1:n.*1262-1G>A
NM_005732.3:c.1636-1G>A	NP_005723.2:n.1636-1G>A
NM_005732.4:c.1636-1G>A MANE Select	NP_005723.2:n.1636-1G>A