Canonical Allele Identifier: CA331857

Gene: RAD50

Linked Data

• ClinVar Variation Id: 127992
• ClinVar RCV Id: RCV000115928 ; RCV000212908 ; RCV000409378 ; RCV001030502 ; RCV001818281 ; RCV003894952
• dbSNP Id: rs200017020
• ExAC: 5:131924538 A / G
• gnomAD v2: 5-131924538-A-G
• gnomAD v3: 5-132588846-A-G
• gnomAD v4: 5-132588846-A-G
• MyVariant Identifiers: chr5:g.131924538A>G (hg19) ; chr5:g.132588846A>G (hg38)
• PubMed: PMID:23555315 ; PMID:26689913

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588846A>G , CM000667.2:g.132588846A>G	GRCh38
NC_000005.9:g.131924538A>G , CM000667.1:g.131924538A>G	GRCh37
NC_000005.8:g.131952437A>G	NCBI36
NG_021151.1:g.36923A>G
NG_021151.2:g.36870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1211A>G MANE Select	ENSP00000368100.4:p.Gln404Arg
ENST00000638452.2:c.914A>G	ENSP00000492349.2:p.Gln305Arg
ENST00000638504.1:n.897A>G
ENST00000638568.2:c.914A>G	ENSP00000491158.2:p.Gln305Arg
ENST00000639899.1:n.1730A>G
ENST00000640655.2:c.914A>G	ENSP00000491596.2:p.Gln305Arg
ENST00000651160.1:c.1211A>G	ENSP00000498829.1:p.Gln404Arg
ENST00000651541.1:c.914A>G	ENSP00000498795.1:p.Gln305Arg
ENST00000651658.1:n.1638A>G
ENST00000651723.1:c.*1294A>G	ENSP00000498237.1:n.*1294A>G
ENST00000652016.1:c.1211A>G	ENSP00000498267.1:p.Gln404Arg
ENST00000652485.1:c.1211A>G	ENSP00000498973.1:p.Gln404Arg
ENST00000378823.7:c.1211A>G	ENSP00000368100.4:p.Gln404Arg
ENST00000423956.5:c.1211A>G	ENSP00000390971.1:p.Gln404Arg
ENST00000453394.5:c.1211A>G	ENSP00000400049.1:p.Gln404Arg
ENST00000533482.5:c.*837A>G	ENSP00000431225.1:n.*837A>G
NM_005732.3:c.1211A>G	NP_005723.2:p.Gln404Arg
NM_005732.4:c.1211A>G MANE Select	NP_005723.2:p.Gln404Arg