Canonical Allele Identifier: CA197328

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 187314
• ClinVar RCV Id: RCV000167033 ; RCV000507856 ; RCV000538714 ; RCV002291584
• dbSNP Id: rs200009601
• ExAC: 17:33433431 C / T
• gnomAD v2: 17-33433431-C-T
• gnomAD v3: 17-35106412-C-T
• gnomAD v4: 17-35106412-C-T
• COSMIC: COSM4554093 ; COSM4554094 ; COSM4554095
• MyVariant Identifiers: chr17:g.33433431C>T (hg19) ; chr17:g.35106412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35106412C>T , CM000679.2:g.35106412C>T	GRCh38
NC_000017.10:g.33433431C>T , CM000679.1:g.33433431C>T	GRCh37
NC_000017.9:g.30457544C>T	NCBI36
NG_031858.1:g.18458G>A , LRG_516:g.18458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586186.3:c.415G>A	ENSP00000468273.3:p.Glu139Lys
ENST00000587405.6:c.193G>A	ENSP00000466478.2:p.Glu65Lys
ENST00000590016.6:c.610G>A	ENSP00000466399.1:p.Glu204Lys
ENST00000590631.2:n.506G>A
ENST00000592577.6:c.193G>A	ENSP00000466839.2:p.Glu65Lys
ENST00000345365.11:c.550G>A MANE Select	ENSP00000338790.6:p.Glu184Lys
ENST00000335858.11:c.214G>A	ENSP00000338408.6:p.Glu72Lys
ENST00000345365.10:c.550G>A	ENSP00000338790.6:p.Glu184Lys
ENST00000394589.8:c.550G>A	ENSP00000378090.4:p.Glu184Lys
ENST00000415064.6:n.700G>A
ENST00000460118.6:c.19G>A	ENSP00000464356.2:p.Glu7Lys
ENST00000585947.5:n.446G>A
ENST00000585982.5:n.570G>A
ENST00000586044.5:c.*281G>A	ENSP00000465584.1:n.*281G>A
ENST00000586210.5:c.*144G>A	ENSP00000465612.1:n.*144G>A
ENST00000587405.5:c.193G>A	ENSP00000466478.1:p.Glu65Lys
ENST00000587977.5:c.*290G>A	ENSP00000466587.1:n.*290G>A
ENST00000587982.5:n.343G>A
ENST00000588372.5:c.193G>A	ENSP00000468764.1:p.Glu65Lys
ENST00000588594.5:c.*146G>A	ENSP00000465366.1:n.*146G>A
ENST00000590016.5:c.610G>A	ENSP00000466399.1:p.Glu204Lys
ENST00000590631.1:c.19G>A	ENSP00000465033.1:p.Glu7Lys
ENST00000591723.5:c.19G>A	ENSP00000467986.1:p.Glu7Lys
ENST00000592181.1:c.193G>A	ENSP00000464799.1:p.Glu65Lys
ENST00000592430.5:n.519G>A
ENST00000592577.5:c.556G>A	ENSP00000466839.1:p.Glu186Lys
ENST00000593039.5:c.73G>A	ENSP00000466834.1:p.Glu25Lys
NM_001142571.1:c.610G>A	NP_001136043.1:p.Glu204Lys
NM_002878.3:c.550G>A , LRG_516t1:c.550G>A	NP_002869.3:p.Glu184Lys
NM_133629.2:c.214G>A	NP_598332.1:p.Glu72Lys
NR_037711.1:n.687G>A
NR_037712.1:n.552G>A
NR_037714.1:n.302G>A
NM_001142571.2:c.610G>A	NP_001136043.1:p.Glu204Lys
NM_133629.3:c.214G>A	NP_598332.1:p.Glu72Lys
NR_037711.2:n.576G>A
NR_037712.2:n.441G>A
NM_002878.4:c.550G>A MANE Select	NP_002869.3:p.Glu184Lys