Canonical Allele Identifier: CA360956488

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1022737
• ClinVar RCV Id: RCV001322682
• dbSNP Id: rs1444790340
• gnomAD v3: 5-132604875-G-A
• gnomAD v4: 5-132604875-G-A
• MyVariant Identifiers: chr5:g.131940567G>A (hg19) ; chr5:g.132604875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604875G>A , CM000667.2:g.132604875G>A	GRCh38
NC_000005.9:g.131940567G>A , CM000667.1:g.131940567G>A	GRCh37
NC_000005.8:g.131968466G>A	NCBI36
NG_021151.1:g.52952G>A
NG_021151.2:g.52899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2594G>A MANE Select	ENSP00000368100.4:p.Ser865Asn
ENST00000638452.2:c.2297G>A	ENSP00000492349.2:p.Ser766Asn
ENST00000638504.1:n.2202G>A
ENST00000638568.2:c.2297G>A	ENSP00000491158.2:p.Ser766Asn
ENST00000639899.1:n.3113G>A
ENST00000640655.2:c.2297G>A	ENSP00000491596.2:p.Ser766Asn
ENST00000651160.1:c.*738G>A	ENSP00000498829.1:n.*738G>A
ENST00000651723.1:c.*2677G>A	ENSP00000498237.1:n.*2677G>A
ENST00000652016.1:c.*811G>A	ENSP00000498267.1:n.*811G>A
ENST00000652485.1:c.2627G>A	ENSP00000498973.1:p.Ser876Asn
ENST00000378823.7:c.2594G>A	ENSP00000368100.4:p.Ser865Asn
ENST00000423956.5:c.*780G>A	ENSP00000390971.1:n.*780G>A
ENST00000533482.5:c.*2220G>A	ENSP00000431225.1:n.*2220G>A
NM_005732.3:c.2594G>A	NP_005723.2:p.Ser865Asn
NM_005732.4:c.2594G>A MANE Select	NP_005723.2:p.Ser865Asn