Canonical Allele Identifier: CA293923

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 138873
• ClinVar RCV Id: RCV000128967 ; RCV000212967 ; RCV000588832 ; RCV001354814 ; RCV001723701 ; RCV000203773
• dbSNP Id: rs28363284
• ExAC: 17:33430313 T / C
• gnomAD v2: 17-33430313-T-C
• gnomAD v3: 17-35103294-T-C
• gnomAD v4: 17-35103294-T-C
• MyVariant Identifiers: chr17:g.33430313T>C (hg19) ; chr17:g.35103294T>C (hg38)
• PubMed: PMID:15170666 ; PMID:18058226 ; PMID:19033885 ; PMID:19347880 ; PMID:20054644 ; PMID:21822267 ; PMID:24130102 ; PMID:24784581 ; PMID:25318351 ; PMID:26261251 ; PMID:26485759 ; PMID:26764160 ; PMID:27016235 ; PMID:27153395 ; PMID:27616075

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35103294T>C , CM000679.2:g.35103294T>C	GRCh38
NC_000017.10:g.33430313T>C , CM000679.1:g.33430313T>C	GRCh37
NC_000017.9:g.30454426T>C	NCBI36
NG_031858.1:g.21576A>G , LRG_516:g.21576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586186.3:c.563A>G	ENSP00000468273.3:p.Glu188Gly
ENST00000587405.6:c.341A>G	ENSP00000466478.2:p.Glu114Gly
ENST00000590016.6:c.758A>G	ENSP00000466399.1:p.Glu253Gly
ENST00000592577.6:c.341A>G	ENSP00000466839.2:p.Glu114Gly
ENST00000345365.11:c.698A>G MANE Select	ENSP00000338790.6:p.Glu233Gly
ENST00000335858.11:c.362A>G	ENSP00000338408.6:p.Glu121Gly
ENST00000345365.10:c.698A>G	ENSP00000338790.6:p.Glu233Gly
ENST00000394589.8:c.698A>G	ENSP00000378090.4:p.Glu233Gly
ENST00000460118.6:c.167A>G	ENSP00000464356.2:p.Glu56Gly
ENST00000586044.5:c.*429A>G	ENSP00000465584.1:n.*429A>G
ENST00000586210.5:c.*292A>G	ENSP00000465612.1:n.*292A>G
ENST00000587405.5:c.341A>G	ENSP00000466478.1:p.Glu114Gly
ENST00000587977.5:c.*438A>G	ENSP00000466587.1:n.*438A>G
ENST00000588372.5:c.*181A>G	ENSP00000468764.1:n.*181A>G
ENST00000588594.5:c.*294A>G	ENSP00000465366.1:n.*294A>G
ENST00000590016.5:c.758A>G	ENSP00000466399.1:p.Glu253Gly
ENST00000591723.5:c.167A>G	ENSP00000467986.1:p.Glu56Gly
ENST00000592181.1:c.341A>G	ENSP00000464799.1:p.Glu114Gly
ENST00000592577.5:c.704A>G	ENSP00000466839.1:p.Glu235Gly
ENST00000593039.5:c.221A>G	ENSP00000466834.1:p.Glu74Gly
NM_001142571.1:c.758A>G	NP_001136043.1:p.Glu253Gly
NM_002878.3:c.698A>G , LRG_516t1:c.698A>G	NP_002869.3:p.Glu233Gly
NM_133629.2:c.362A>G	NP_598332.1:p.Glu121Gly
NR_037711.1:n.835A>G
NR_037712.1:n.700A>G
NR_037714.1:n.450A>G
NM_001142571.2:c.758A>G	NP_001136043.1:p.Glu253Gly
NM_133629.3:c.362A>G	NP_598332.1:p.Glu121Gly
NR_037711.2:n.724A>G
NR_037712.2:n.589A>G
NM_002878.4:c.698A>G MANE Select	NP_002869.3:p.Glu233Gly