Canonical Allele Identifier: CA127234437

Gene: RAD50

Linked Data

• ClinVar Variation Id: 484629
• ClinVar RCV Id: RCV000564636
• dbSNP Id: rs937875134
• gnomAD v3: 5-132575789-A-G
• gnomAD v4: 5-132575789-A-G
• MyVariant Identifiers: chr5:g.131911481A>G (hg19) ; chr5:g.132575789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575789A>G , CM000667.2:g.132575789A>G	GRCh38
NC_000005.9:g.131911481A>G , CM000667.1:g.131911481A>G	GRCh37
NC_000005.8:g.131939380A>G	NCBI36
NG_021151.1:g.23866A>G
NG_021151.2:g.23813A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.226A>G MANE Select	ENSP00000368100.4:p.Thr76Ala
ENST00000638452.2:c.-72A>G	ENSP00000492349.2:n.-72A>G
ENST00000638504.1:n.303A>G
ENST00000638568.2:c.-72A>G	ENSP00000491158.2:n.-72A>G
ENST00000639899.1:n.386A>G
ENST00000640655.2:c.-72A>G	ENSP00000491596.2:n.-72A>G
ENST00000651160.1:c.226A>G	ENSP00000498829.1:p.Thr76Ala
ENST00000651541.1:c.-72A>G	ENSP00000498795.1:n.-72A>G
ENST00000651658.1:n.294A>G
ENST00000651723.1:c.*374A>G	ENSP00000498237.1:n.*374A>G
ENST00000652016.1:c.226A>G	ENSP00000498267.1:p.Thr76Ala
ENST00000652485.1:c.226A>G	ENSP00000498973.1:p.Thr76Ala
ENST00000378823.7:c.226A>G	ENSP00000368100.4:p.Thr76Ala
ENST00000416135.5:c.-72A>G	ENSP00000389515.1:n.-72A>G
ENST00000423956.5:c.226A>G	ENSP00000390971.1:p.Thr76Ala
ENST00000453394.5:c.226A>G	ENSP00000400049.1:p.Thr76Ala
ENST00000533482.5:c.226A>G	ENSP00000431225.1:p.Thr76Ala
NM_005732.3:c.226A>G	NP_005723.2:p.Thr76Ala
NM_005732.4:c.226A>G MANE Select	NP_005723.2:p.Thr76Ala