Canonical Allele Identifier: CA360959746

Gene: RAD50

Linked Data

• ClinVar Variation Id: 661916
• ClinVar RCV Id: RCV000819440
• dbSNP Id: rs1581004673
• gnomAD v4: 5-132609170-T-G
• MyVariant Identifiers: chr5:g.131944862T>G (hg19) ; chr5:g.132609170T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609170T>G , CM000667.2:g.132609170T>G	GRCh38
NC_000005.9:g.131944862T>G , CM000667.1:g.131944862T>G	GRCh37
NC_000005.8:g.131972761T>G	NCBI36
NG_021151.1:g.57247T>G
NG_021151.2:g.57194T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2883T>G MANE Select	ENSP00000368100.4:p.Ile961Met
ENST00000638452.2:c.2586T>G	ENSP00000492349.2:p.Ile862Met
ENST00000638504.1:n.2491T>G
ENST00000638568.2:c.2586T>G	ENSP00000491158.2:p.Ile862Met
ENST00000639899.1:n.3402T>G
ENST00000640655.2:c.2586T>G	ENSP00000491596.2:p.Ile862Met
ENST00000651160.1:c.*1027T>G	ENSP00000498829.1:n.*1027T>G
ENST00000651723.1:c.*2966T>G	ENSP00000498237.1:n.*2966T>G
ENST00000378823.7:c.2883T>G	ENSP00000368100.4:p.Ile961Met
ENST00000423956.5:c.*1069T>G	ENSP00000390971.1:n.*1069T>G
ENST00000533482.5:c.*2509T>G	ENSP00000431225.1:n.*2509T>G
NM_005732.3:c.2883T>G	NP_005723.2:p.Ile961Met
NM_005732.4:c.2883T>G MANE Select	NP_005723.2:p.Ile961Met