Canonical Allele Identifier: CA360951630

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1768244
• ClinVar RCV Id: RCV002376794
• gnomAD v4: 5-132557421-A-G
• MyVariant Identifiers: chr5:g.131893113A>G (hg19) ; chr5:g.132557421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557421A>G , CM000667.2:g.132557421A>G	GRCh38
NC_000005.9:g.131893113A>G , CM000667.1:g.131893113A>G	GRCh37
NC_000005.8:g.131921012A>G	NCBI36
NG_021151.1:g.5498A>G
NG_021151.2:g.5445A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.97A>G MANE Select	ENSP00000368100.4:p.Ile33Val
ENST00000638452.2:c.-168-1863A>G	ENSP00000492349.2:n.-168-1863A>G
ENST00000638504.1:n.207-1863A>G
ENST00000638568.2:c.-169+948A>G	ENSP00000491158.2:n.-169+948A>G
ENST00000639899.1:n.290-1863A>G
ENST00000640655.2:c.-168-1863A>G	ENSP00000491596.2:n.-168-1863A>G
ENST00000651160.1:c.97A>G	ENSP00000498829.1:p.Ile33Val
ENST00000651541.1:c.-169+412A>G	ENSP00000498795.1:n.-169+412A>G
ENST00000651658.1:n.165A>G
ENST00000651723.1:c.97A>G	ENSP00000498237.1:p.Ile33Val
ENST00000652016.1:c.97A>G	ENSP00000498267.1:p.Ile33Val
ENST00000652485.1:c.97A>G	ENSP00000498973.1:p.Ile33Val
ENST00000378823.7:c.97A>G	ENSP00000368100.4:p.Ile33Val
ENST00000416135.5:c.-169+948A>G	ENSP00000389515.1:n.-169+948A>G
ENST00000423956.5:c.97A>G	ENSP00000390971.1:p.Ile33Val
ENST00000453394.5:c.97A>G	ENSP00000400049.1:p.Ile33Val
ENST00000533482.5:c.97A>G	ENSP00000431225.1:p.Ile33Val
NM_005732.3:c.97A>G	NP_005723.2:p.Ile33Val
NM_005732.4:c.97A>G MANE Select	NP_005723.2:p.Ile33Val