Canonical Allele Identifier: CA164471

Gene: RAD50

Linked Data

• ClinVar Variation Id: 141106
• ClinVar RCV Id: RCV000129470 ; RCV000764571
• dbSNP Id: rs118029772
• ExAC: 5:131911469 G / A
• gnomAD v2: 5-131911469-G-A
• gnomAD v3: 5-132575777-G-A
• gnomAD v4: 5-132575777-G-A
• MyVariant Identifiers: chr5:g.131911469G>A (hg19) ; chr5:g.132575777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575777G>A , CM000667.2:g.132575777G>A	GRCh38
NC_000005.9:g.131911469G>A , CM000667.1:g.131911469G>A	GRCh37
NC_000005.8:g.131939368G>A	NCBI36
NG_021151.1:g.23854G>A
NG_021151.2:g.23801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.214G>A MANE Select	ENSP00000368100.4:p.Val72Ile
ENST00000638452.2:c.-84G>A	ENSP00000492349.2:n.-84G>A
ENST00000638504.1:n.291G>A
ENST00000638568.2:c.-84G>A	ENSP00000491158.2:n.-84G>A
ENST00000639899.1:n.374G>A
ENST00000640655.2:c.-84G>A	ENSP00000491596.2:n.-84G>A
ENST00000651160.1:c.214G>A	ENSP00000498829.1:p.Val72Ile
ENST00000651541.1:c.-84G>A	ENSP00000498795.1:n.-84G>A
ENST00000651658.1:n.282G>A
ENST00000651723.1:c.*362G>A	ENSP00000498237.1:n.*362G>A
ENST00000652016.1:c.214G>A	ENSP00000498267.1:p.Val72Ile
ENST00000652485.1:c.214G>A	ENSP00000498973.1:p.Val72Ile
ENST00000378823.7:c.214G>A	ENSP00000368100.4:p.Val72Ile
ENST00000416135.5:c.-84G>A	ENSP00000389515.1:n.-84G>A
ENST00000423956.5:c.214G>A	ENSP00000390971.1:p.Val72Ile
ENST00000453394.5:c.214G>A	ENSP00000400049.1:p.Val72Ile
ENST00000533482.5:c.214G>A	ENSP00000431225.1:p.Val72Ile
NM_005732.3:c.214G>A	NP_005723.2:p.Val72Ile
NM_005732.4:c.214G>A MANE Select	NP_005723.2:p.Val72Ile