Canonical Allele Identifier: CA10649026

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 322623
• ClinVar RCV Id: RCV000708751 ; RCV003642884
• dbSNP Id: rs886052817
• MyVariant Identifiers: chr17:g.33428026A>C (hg19) ; chr17:g.35101007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35101007A>C , CM000679.2:g.35101007A>C	GRCh38
NC_000017.10:g.33428026A>C , CM000679.1:g.33428026A>C	GRCh37
NC_000017.9:g.30452139A>C	NCBI36
NG_031858.1:g.23863T>G , LRG_516:g.23863T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586186.3:c.798T>G	ENSP00000468273.3:p.Ile266Met
ENST00000587405.6:c.576T>G	ENSP00000466478.2:p.Ile192Met
ENST00000590016.6:c.993T>G	ENSP00000466399.1:p.Ile331Met
ENST00000592577.6:c.576T>G	ENSP00000466839.2:p.Ile192Met
ENST00000345365.11:c.933T>G MANE Select	ENSP00000338790.6:p.Ile311Met
ENST00000335858.11:c.597T>G	ENSP00000338408.6:p.Ile199Met
ENST00000345365.10:c.933T>G	ENSP00000338790.6:p.Ile311Met
ENST00000394589.8:c.933T>G	ENSP00000378090.4:p.Ile311Met
ENST00000460118.6:c.402T>G	ENSP00000464356.2:p.Ile134Met
ENST00000586044.5:c.*664T>G	ENSP00000465584.1:n.*664T>G
ENST00000586210.5:c.*527T>G	ENSP00000465612.1:n.*527T>G
ENST00000587977.5:c.*673T>G	ENSP00000466587.1:n.*673T>G
ENST00000588372.5:c.*416T>G	ENSP00000468764.1:n.*416T>G
ENST00000588594.5:c.*529T>G	ENSP00000465366.1:n.*529T>G
ENST00000590016.5:c.993T>G	ENSP00000466399.1:p.Ile331Met
ENST00000591723.5:c.372+194T>G	ENSP00000467986.1:n.372+194T>G
ENST00000592181.1:c.546+194T>G	ENSP00000464799.1:n.546+194T>G
ENST00000593039.5:c.426+194T>G	ENSP00000466834.1:n.426+194T>G
NM_001142571.1:c.993T>G	NP_001136043.1:p.Ile331Met
NM_002878.3:c.933T>G , LRG_516t1:c.933T>G	NP_002869.3:p.Ile311Met
NM_133629.2:c.597T>G	NP_598332.1:p.Ile199Met
NR_037711.1:n.1070T>G
NR_037712.1:n.935T>G
NR_037714.1:n.655+194T>G
NM_001142571.2:c.993T>G	NP_001136043.1:p.Ile331Met
NM_133629.3:c.597T>G	NP_598332.1:p.Ile199Met
NR_037711.2:n.959T>G
NR_037712.2:n.824T>G
NM_002878.4:c.933T>G MANE Select	NP_002869.3:p.Ile311Met