Canonical Allele Identifier: CA446495034

Gene: RAD50

Linked Data

• ClinVar Variation Id: 707429
• ClinVar RCV Id: RCV001453321
• dbSNP Id: rs1581004591
• gnomAD v4: 5-132609125-T-C
• MyVariant Identifiers: chr5:g.131944817T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609125T>C , CM000667.2:g.132609125T>C	GRCh38
NC_000005.9:g.131944817T>C , CM000667.1:g.131944817T>C	GRCh37
NC_000005.8:g.131972716T>C	NCBI36
NG_021151.1:g.57202T>C
NG_021151.2:g.57149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2838T>C MANE Select	ENSP00000368100.4:p.Asp946=
ENST00000638452.2:c.2541T>C	ENSP00000492349.2:p.Asp847=
ENST00000638504.1:n.2446T>C
ENST00000638568.2:c.2541T>C	ENSP00000491158.2:p.Asp847=
ENST00000639899.1:n.3357T>C
ENST00000640655.2:c.2541T>C	ENSP00000491596.2:p.Asp847=
ENST00000651160.1:c.*982T>C	ENSP00000498829.1:n.*982T>C
ENST00000651723.1:c.*2921T>C	ENSP00000498237.1:n.*2921T>C
ENST00000378823.7:c.2838T>C	ENSP00000368100.4:p.Asp946=
ENST00000423956.5:c.*1024T>C	ENSP00000390971.1:n.*1024T>C
ENST00000533482.5:c.*2464T>C	ENSP00000431225.1:n.*2464T>C
NM_005732.3:c.2838T>C	NP_005723.2:p.Asp946=
NM_005732.4:c.2838T>C MANE Select	NP_005723.2:p.Asp946=