Canonical Allele Identifier: CA3405473

Gene: RAD50

Linked Data

• ClinVar Variation Id: 577753
• ClinVar RCV Id: RCV000700584
• dbSNP Id: rs777796968
• ExAC: 5:131944861 T / C
• gnomAD v2: 5-131944861-T-C
• gnomAD v4: 5-132609169-T-C
• MyVariant Identifiers: chr5:g.131944861T>C (hg19) ; chr5:g.132609169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609169T>C , CM000667.2:g.132609169T>C	GRCh38
NC_000005.9:g.131944861T>C , CM000667.1:g.131944861T>C	GRCh37
NC_000005.8:g.131972760T>C	NCBI36
NG_021151.1:g.57246T>C
NG_021151.2:g.57193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2882T>C MANE Select	ENSP00000368100.4:p.Ile961Thr
ENST00000638452.2:c.2585T>C	ENSP00000492349.2:p.Ile862Thr
ENST00000638504.1:n.2490T>C
ENST00000638568.2:c.2585T>C	ENSP00000491158.2:p.Ile862Thr
ENST00000639899.1:n.3401T>C
ENST00000640655.2:c.2585T>C	ENSP00000491596.2:p.Ile862Thr
ENST00000651160.1:c.*1026T>C	ENSP00000498829.1:n.*1026T>C
ENST00000651723.1:c.*2965T>C	ENSP00000498237.1:n.*2965T>C
ENST00000378823.7:c.2882T>C	ENSP00000368100.4:p.Ile961Thr
ENST00000423956.5:c.*1068T>C	ENSP00000390971.1:n.*1068T>C
ENST00000533482.5:c.*2508T>C	ENSP00000431225.1:n.*2508T>C
NM_005732.3:c.2882T>C	NP_005723.2:p.Ile961Thr
NM_005732.4:c.2882T>C MANE Select	NP_005723.2:p.Ile961Thr