Canonical Allele Identifier: CA208167

Gene: RAD50

Linked Data

• ClinVar Variation Id: 183821
• ClinVar RCV Id: RCV000162640 ; RCV000194174 ; RCV003315980 ; RCV000409828
• dbSNP Id: rs35800931
• ExAC: 5:131951811 G / A
• gnomAD v2: 5-131951811-G-A
• gnomAD v3: 5-132616119-G-A
• gnomAD v4: 5-132616119-G-A
• MyVariant Identifiers: chr5:g.131951811G>A (hg19) ; chr5:g.132616119G>A (hg38)
• PubMed: PMID:24894818

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132616119G>A , CM000667.2:g.132616119G>A	GRCh38
NC_000005.9:g.131951811G>A , CM000667.1:g.131951811G>A	GRCh37
NC_000005.8:g.131979710G>A	NCBI36
NG_021151.1:g.64196G>A
NG_021151.2:g.64143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3153G>A MANE Select	ENSP00000368100.4:p.Leu1051=
ENST00000638452.2:c.2856G>A	ENSP00000492349.2:p.Leu952=
ENST00000638504.1:n.2761G>A
ENST00000638568.2:c.2856G>A	ENSP00000491158.2:p.Leu952=
ENST00000639899.1:n.3672G>A
ENST00000640655.2:c.2856G>A	ENSP00000491596.2:p.Leu952=
ENST00000378823.7:c.3153G>A	ENSP00000368100.4:p.Leu1051=
ENST00000533482.5:c.*2779G>A	ENSP00000431225.1:n.*2779G>A
NM_005732.3:c.3153G>A	NP_005723.2:p.Leu1051=
NM_005732.4:c.3153G>A MANE Select	NP_005723.2:p.Leu1051=