Canonical Allele Identifier: CA191935

Gene: RAD50

Linked Data

• ClinVar Variation Id: 185432
• ClinVar RCV Id: RCV000164857 ; RCV003316031
• dbSNP Id: rs375978877
• ExAC: 5:131930699 G / A
• gnomAD v2: 5-131930699-G-A
• gnomAD v3: 5-132595007-G-A
• gnomAD v4: 5-132595007-G-A
• MyVariant Identifiers: chr5:g.131930699G>A (hg19) ; chr5:g.132595007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595007G>A , CM000667.2:g.132595007G>A	GRCh38
NC_000005.9:g.131930699G>A , CM000667.1:g.131930699G>A	GRCh37
NC_000005.8:g.131958598G>A	NCBI36
NG_021151.1:g.43084G>A
NG_021151.2:g.43031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1932G>A MANE Select	ENSP00000368100.4:p.Arg644=
ENST00000638452.2:c.1635G>A	ENSP00000492349.2:p.Arg545=
ENST00000638504.1:n.1480-97G>A
ENST00000638568.2:c.1635G>A	ENSP00000491158.2:p.Arg545=
ENST00000639899.1:n.2451G>A
ENST00000640655.2:c.1635G>A	ENSP00000491596.2:p.Arg545=
ENST00000651160.1:c.*16-97G>A	ENSP00000498829.1:n.*16-97G>A
ENST00000651658.1:n.2475G>A
ENST00000651723.1:c.*2015G>A	ENSP00000498237.1:n.*2015G>A
ENST00000652016.1:c.*89-97G>A	ENSP00000498267.1:n.*89-97G>A
ENST00000652485.1:c.1965G>A	ENSP00000498973.1:p.Arg655=
ENST00000378823.7:c.1932G>A	ENSP00000368100.4:p.Arg644=
ENST00000423956.5:c.*118G>A	ENSP00000390971.1:n.*118G>A
ENST00000453394.5:c.1749G>A	ENSP00000400049.1:p.Arg583=
ENST00000533482.5:c.*1558G>A	ENSP00000431225.1:n.*1558G>A
NM_005732.3:c.1932G>A	NP_005723.2:p.Arg644=
NM_005732.4:c.1932G>A MANE Select	NP_005723.2:p.Arg644=