Canonical Allele Identifier: CA360960035

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1797614
• ClinVar RCV Id: RCV002439864
• gnomAD v4: 5-132609201-T-G
• MyVariant Identifiers: chr5:g.131944893T>G (hg19) ; chr5:g.132609201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609201T>G , CM000667.2:g.132609201T>G	GRCh38
NC_000005.9:g.131944893T>G , CM000667.1:g.131944893T>G	GRCh37
NC_000005.8:g.131972792T>G	NCBI36
NG_021151.1:g.57278T>G
NG_021151.2:g.57225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2914T>G MANE Select	ENSP00000368100.4:p.Tyr972Asp
ENST00000638452.2:c.2617T>G	ENSP00000492349.2:p.Tyr873Asp
ENST00000638504.1:n.2522T>G
ENST00000638568.2:c.2617T>G	ENSP00000491158.2:p.Tyr873Asp
ENST00000639899.1:n.3433T>G
ENST00000640655.2:c.2617T>G	ENSP00000491596.2:p.Tyr873Asp
ENST00000651160.1:c.*1058T>G	ENSP00000498829.1:n.*1058T>G
ENST00000651723.1:c.*2997T>G	ENSP00000498237.1:n.*2997T>G
ENST00000378823.7:c.2914T>G	ENSP00000368100.4:p.Tyr972Asp
ENST00000423956.5:c.*1100T>G	ENSP00000390971.1:n.*1100T>G
ENST00000533482.5:c.*2540T>G	ENSP00000431225.1:n.*2540T>G
NM_005732.3:c.2914T>G	NP_005723.2:p.Tyr972Asp
NM_005732.4:c.2914T>G MANE Select	NP_005723.2:p.Tyr972Asp