Canonical Allele Identifier: CA10578599

Gene: RAD50

Linked Data

• ClinVar Variation Id: 230674
• ClinVar RCV Id: RCV000218193 ; RCV000760839
• dbSNP Id: rs775069541
• gnomAD v4: 5-132618277-T-A
• MyVariant Identifiers: chr5:g.131953969T>A (hg19) ; chr5:g.132618277T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618277T>A , CM000667.2:g.132618277T>A	GRCh38
NC_000005.9:g.131953969T>A , CM000667.1:g.131953969T>A	GRCh37
NC_000005.8:g.131981868T>A	NCBI36
NG_021151.1:g.66354T>A
NG_021151.2:g.66301T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3372T>A MANE Select	ENSP00000368100.4:p.Tyr1124Ter
ENST00000638452.2:c.3075T>A	ENSP00000492349.2:p.Tyr1025Ter
ENST00000638504.1:n.2980T>A
ENST00000638568.2:c.3075T>A	ENSP00000491158.2:p.Tyr1025Ter
ENST00000639899.1:n.3891T>A
ENST00000640655.2:c.3075T>A	ENSP00000491596.2:p.Tyr1025Ter
ENST00000651249.1:c.208T>A
ENST00000378823.7:c.3372T>A	ENSP00000368100.4:p.Tyr1124Ter
ENST00000455677.1:c.7T>A
ENST00000533482.5:c.*2998T>A	ENSP00000431225.1:n.*2998T>A
NM_005732.3:c.3372T>A	NP_005723.2:p.Tyr1124Ter
NM_005732.4:c.3372T>A MANE Select	NP_005723.2:p.Tyr1124Ter