Canonical Allele Identifier: CA360959495

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1016894
• ClinVar RCV Id: RCV001315966
• dbSNP Id: rs1751037683
• gnomAD v4: 5-132609139-T-C
• MyVariant Identifiers: chr5:g.131944831T>C (hg19) ; chr5:g.132609139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609139T>C , CM000667.2:g.132609139T>C	GRCh38
NC_000005.9:g.131944831T>C , CM000667.1:g.131944831T>C	GRCh37
NC_000005.8:g.131972730T>C	NCBI36
NG_021151.1:g.57216T>C
NG_021151.2:g.57163T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2852T>C MANE Select	ENSP00000368100.4:p.Val951Ala
ENST00000638452.2:c.2555T>C	ENSP00000492349.2:p.Val852Ala
ENST00000638504.1:n.2460T>C
ENST00000638568.2:c.2555T>C	ENSP00000491158.2:p.Val852Ala
ENST00000639899.1:n.3371T>C
ENST00000640655.2:c.2555T>C	ENSP00000491596.2:p.Val852Ala
ENST00000651160.1:c.*996T>C	ENSP00000498829.1:n.*996T>C
ENST00000651723.1:c.*2935T>C	ENSP00000498237.1:n.*2935T>C
ENST00000378823.7:c.2852T>C	ENSP00000368100.4:p.Val951Ala
ENST00000423956.5:c.*1038T>C	ENSP00000390971.1:n.*1038T>C
ENST00000533482.5:c.*2478T>C	ENSP00000431225.1:n.*2478T>C
NM_005732.3:c.2852T>C	NP_005723.2:p.Val951Ala
NM_005732.4:c.2852T>C MANE Select	NP_005723.2:p.Val951Ala