Canonical Allele Identifier: CA3405528

Gene: RAD50

Linked Data

• dbSNP Id: rs750328275
• ExAC: 5:131953717 A / C
• gnomAD v2: 5-131953717-A-C
• gnomAD v4: 5-132618025-A-C
• MyVariant Identifiers: chr5:g.131953717A>C (hg19) ; chr5:g.132618025A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618025A>C , CM000667.2:g.132618025A>C	GRCh38
NC_000005.9:g.131953717A>C , CM000667.1:g.131953717A>C	GRCh37
NC_000005.8:g.131981616A>C	NCBI36
NG_021151.1:g.66102A>C
NG_021151.2:g.66049A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3165-45A>C MANE Select	ENSP00000368100.4:n.3165-45A>C
ENST00000638452.2:c.2868-45A>C	ENSP00000492349.2:n.2868-45A>C
ENST00000638504.1:n.2773-45A>C
ENST00000638568.2:c.2868-45A>C	ENSP00000491158.2:n.2868-45A>C
ENST00000639899.1:n.3684-45A>C
ENST00000640655.2:c.2868-45A>C	ENSP00000491596.2:n.2868-45A>C
ENST00000378823.7:c.3165-45A>C	ENSP00000368100.4:n.3165-45A>C
ENST00000533482.5:c.*2791-45A>C	ENSP00000431225.1:n.*2791-45A>C
NM_005732.3:c.3165-45A>C	NP_005723.2:n.3165-45A>C
NM_005732.4:c.3165-45A>C MANE Select	NP_005723.2:n.3165-45A>C