Canonical Allele Identifier: CA360956633

Gene: RAD50

Linked Data

• ClinVar Variation Id: 566926
• ClinVar RCV Id: RCV000686867
• dbSNP Id: rs1561645676
• gnomAD v4: 5-132604909-G-C
• MyVariant Identifiers: chr5:g.131940601G>C (hg19) ; chr5:g.132604909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604909G>C , CM000667.2:g.132604909G>C	GRCh38
NC_000005.9:g.131940601G>C , CM000667.1:g.131940601G>C	GRCh37
NC_000005.8:g.131968500G>C	NCBI36
NG_021151.1:g.52986G>C
NG_021151.2:g.52933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2628G>C MANE Select	ENSP00000368100.4:p.Gln876His
ENST00000638452.2:c.2331G>C	ENSP00000492349.2:p.Gln777His
ENST00000638504.1:n.2236G>C
ENST00000638568.2:c.2331G>C	ENSP00000491158.2:p.Gln777His
ENST00000639899.1:n.3147G>C
ENST00000640655.2:c.2331G>C	ENSP00000491596.2:p.Gln777His
ENST00000651160.1:c.*772G>C	ENSP00000498829.1:n.*772G>C
ENST00000651723.1:c.*2711G>C	ENSP00000498237.1:n.*2711G>C
ENST00000652016.1:c.*845G>C	ENSP00000498267.1:n.*845G>C
ENST00000652485.1:c.2661G>C	ENSP00000498973.1:p.Gln887His
ENST00000378823.7:c.2628G>C	ENSP00000368100.4:p.Gln876His
ENST00000423956.5:c.*814G>C	ENSP00000390971.1:n.*814G>C
ENST00000533482.5:c.*2254G>C	ENSP00000431225.1:n.*2254G>C
NM_005732.3:c.2628G>C	NP_005723.2:p.Gln876His
NM_005732.4:c.2628G>C MANE Select	NP_005723.2:p.Gln876His