Canonical Allele Identifier: CA333178

Gene: RAD50

Linked Data

• ClinVar Variation Id: 140976
• ClinVar RCV Id: RCV002257454 ; RCV003477539 ; RCV003945143
• dbSNP Id: rs587781409
• ExAC: 5:131893150 G / A
• gnomAD v2: 5-131893150-G-A
• gnomAD v3: 5-132557458-G-A
• gnomAD v4: 5-132557458-G-A
• MyVariant Identifiers: chr5:g.131893150G>A (hg19) ; chr5:g.132557458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557458G>A , CM000667.2:g.132557458G>A	GRCh38
NC_000005.9:g.131893150G>A , CM000667.1:g.131893150G>A	GRCh37
NC_000005.8:g.131921049G>A	NCBI36
NG_021151.1:g.5535G>A
NG_021151.2:g.5482G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.129+5G>A MANE Select	ENSP00000368100.4:n.129+5G>A
ENST00000638452.2:c.-168-1826G>A	ENSP00000492349.2:n.-168-1826G>A
ENST00000638504.1:n.207-1826G>A
ENST00000638568.2:c.-169+985G>A	ENSP00000491158.2:n.-169+985G>A
ENST00000639899.1:n.290-1826G>A
ENST00000640655.2:c.-168-1826G>A	ENSP00000491596.2:n.-168-1826G>A
ENST00000651160.1:c.129+5G>A	ENSP00000498829.1:n.129+5G>A
ENST00000651541.1:c.-169+449G>A	ENSP00000498795.1:n.-169+449G>A
ENST00000651658.1:n.197+5G>A
ENST00000651723.1:c.134G>A	ENSP00000498237.1:p.Ser45Asn
ENST00000652016.1:c.129+5G>A	ENSP00000498267.1:n.129+5G>A
ENST00000652485.1:c.129+5G>A	ENSP00000498973.1:n.129+5G>A
ENST00000378823.7:c.129+5G>A	ENSP00000368100.4:n.129+5G>A
ENST00000416135.5:c.-169+985G>A	ENSP00000389515.1:n.-169+985G>A
ENST00000423956.5:c.129+5G>A	ENSP00000390971.1:n.129+5G>A
ENST00000453394.5:c.129+5G>A	ENSP00000400049.1:n.129+5G>A
ENST00000533482.5:c.129+5G>A	ENSP00000431225.1:n.129+5G>A
NM_005732.3:c.129+5G>A	NP_005723.2:n.129+5G>A
NM_005732.4:c.129+5G>A MANE Select	NP_005723.2:n.129+5G>A