Canonical Allele Identifier: CA196289

Gene: RAD50

Linked Data

• ClinVar Variation Id: 186938
• ClinVar RCV Id: RCV000166606
• dbSNP Id: rs760787160
• ExAC: 5:131927569 G / A
• gnomAD v2: 5-131927569-G-A
• gnomAD v4: 5-132591877-G-A
• MyVariant Identifiers: chr5:g.131927569G>A (hg19) ; chr5:g.132591877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591877G>A , CM000667.2:g.132591877G>A	GRCh38
NC_000005.9:g.131927569G>A , CM000667.1:g.131927569G>A	GRCh37
NC_000005.8:g.131955468G>A	NCBI36
NG_021151.1:g.39954G>A
NG_021151.2:g.39901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1636G>A MANE Select	ENSP00000368100.4:p.Ala546Thr
ENST00000638452.2:c.1339G>A	ENSP00000492349.2:p.Ala447Thr
ENST00000638504.1:n.1322G>A
ENST00000638568.2:c.1339G>A	ENSP00000491158.2:p.Ala447Thr
ENST00000639899.1:n.2155G>A
ENST00000640655.2:c.1339G>A	ENSP00000491596.2:p.Ala447Thr
ENST00000651160.1:c.1636G>A	ENSP00000498829.1:p.Ala546Thr
ENST00000651541.1:c.1339G>A	ENSP00000498795.1:p.Ala447Thr
ENST00000651658.1:n.2063G>A
ENST00000651723.1:c.*1719G>A	ENSP00000498237.1:n.*1719G>A
ENST00000652016.1:c.1636G>A	ENSP00000498267.1:p.Ala546Thr
ENST00000652485.1:c.1669G>A	ENSP00000498973.1:p.Ala557Thr
ENST00000378823.7:c.1636G>A	ENSP00000368100.4:p.Ala546Thr
ENST00000423956.5:c.1635+471G>A	ENSP00000390971.1:n.1635+471G>A
ENST00000434288.1:c.131G>A
ENST00000453394.5:c.1453G>A	ENSP00000400049.1:p.Ala485Thr
ENST00000533482.5:c.*1262G>A	ENSP00000431225.1:n.*1262G>A
NM_005732.3:c.1636G>A	NP_005723.2:p.Ala546Thr
NM_005732.4:c.1636G>A MANE Select	NP_005723.2:p.Ala546Thr