Canonical Allele Identifier: CA197794

Gene: RAD50

Linked Data

• ClinVar Variation Id: 187497
• ClinVar RCV Id: RCV000167231
• dbSNP Id: rs786203779
• gnomAD v4: 5-132618250-A-C
• MyVariant Identifiers: chr5:g.131953942A>C (hg19) ; chr5:g.132618250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618250A>C , CM000667.2:g.132618250A>C	GRCh38
NC_000005.9:g.131953942A>C , CM000667.1:g.131953942A>C	GRCh37
NC_000005.8:g.131981841A>C	NCBI36
NG_021151.1:g.66327A>C
NG_021151.2:g.66274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3345A>C MANE Select	ENSP00000368100.4:p.Glu1115Asp
ENST00000638452.2:c.3048A>C	ENSP00000492349.2:p.Glu1016Asp
ENST00000638504.1:n.2953A>C
ENST00000638568.2:c.3048A>C	ENSP00000491158.2:p.Glu1016Asp
ENST00000639899.1:n.3864A>C
ENST00000640655.2:c.3048A>C	ENSP00000491596.2:p.Glu1016Asp
ENST00000651249.1:c.181A>C
ENST00000378823.7:c.3345A>C	ENSP00000368100.4:p.Glu1115Asp
ENST00000533482.5:c.*2971A>C	ENSP00000431225.1:n.*2971A>C
NM_005732.3:c.3345A>C	NP_005723.2:p.Glu1115Asp
NM_005732.4:c.3345A>C MANE Select	NP_005723.2:p.Glu1115Asp