Canonical Allele Identifier: CA360955855

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1351627
• ClinVar RCV Id: RCV002044870
• dbSNP Id: rs2149847320
• MyVariant Identifiers: chr5:g.131939718A>C (hg19) ; chr5:g.132604026A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604026A>C , CM000667.2:g.132604026A>C	GRCh38
NC_000005.9:g.131939718A>C , CM000667.1:g.131939718A>C	GRCh37
NC_000005.8:g.131967617A>C	NCBI36
NG_021151.1:g.52103A>C
NG_021151.2:g.52050A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2504A>C MANE Select	ENSP00000368100.4:p.Lys835Thr
ENST00000638452.2:c.2207A>C	ENSP00000492349.2:p.Lys736Thr
ENST00000638504.1:n.2112A>C
ENST00000638568.2:c.2207A>C	ENSP00000491158.2:p.Lys736Thr
ENST00000639899.1:n.3023A>C
ENST00000640655.2:c.2207A>C	ENSP00000491596.2:p.Lys736Thr
ENST00000651160.1:c.*648A>C	ENSP00000498829.1:n.*648A>C
ENST00000651658.1:n.3047A>C
ENST00000651723.1:c.*2587A>C	ENSP00000498237.1:n.*2587A>C
ENST00000652016.1:c.*721A>C	ENSP00000498267.1:n.*721A>C
ENST00000652485.1:c.2537A>C	ENSP00000498973.1:p.Lys846Thr
ENST00000378823.7:c.2504A>C	ENSP00000368100.4:p.Lys835Thr
ENST00000423956.5:c.*690A>C	ENSP00000390971.1:n.*690A>C
ENST00000533482.5:c.*2130A>C	ENSP00000431225.1:n.*2130A>C
NM_005732.3:c.2504A>C	NP_005723.2:p.Lys835Thr
NM_005732.4:c.2504A>C MANE Select	NP_005723.2:p.Lys835Thr