Canonical Allele Identifier: CA3405561

Gene: RAD50

Linked Data

• ClinVar Variation Id: 823679
• ClinVar RCV Id: RCV001020119
• dbSNP Id: rs775069541
• ExAC: 5:131953969 T / G
• gnomAD v2: 5-131953969-T-G
• gnomAD v4: 5-132618277-T-G
• MyVariant Identifiers: chr5:g.131953969T>G (hg19) ; chr5:g.132618277T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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