Canonical Allele Identifier: CA10639370

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 322624
• ClinVar RCV Id: RCV000775245 ; RCV003488538
• dbSNP Id: rs886052818
• MyVariant Identifiers: chr17:g.33428030T>G (hg19) ; chr17:g.35101011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35101011T>G , CM000679.2:g.35101011T>G	GRCh38
NC_000017.10:g.33428030T>G , CM000679.1:g.33428030T>G	GRCh37
NC_000017.9:g.30452143T>G	NCBI36
NG_031858.1:g.23859A>C , LRG_516:g.23859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586186.3:c.794A>C	ENSP00000468273.3:p.Asp265Ala
ENST00000587405.6:c.572A>C	ENSP00000466478.2:p.Asp191Ala
ENST00000590016.6:c.989A>C	ENSP00000466399.1:p.Asp330Ala
ENST00000592577.6:c.572A>C	ENSP00000466839.2:p.Asp191Ala
ENST00000345365.11:c.929A>C MANE Select	ENSP00000338790.6:p.Asp310Ala
ENST00000335858.11:c.593A>C	ENSP00000338408.6:p.Asp198Ala
ENST00000345365.10:c.929A>C	ENSP00000338790.6:p.Asp310Ala
ENST00000394589.8:c.929A>C	ENSP00000378090.4:p.Asp310Ala
ENST00000460118.6:c.398A>C	ENSP00000464356.2:p.Asp133Ala
ENST00000586044.5:c.*660A>C	ENSP00000465584.1:n.*660A>C
ENST00000586210.5:c.*523A>C	ENSP00000465612.1:n.*523A>C
ENST00000587977.5:c.*669A>C	ENSP00000466587.1:n.*669A>C
ENST00000588372.5:c.*412A>C	ENSP00000468764.1:n.*412A>C
ENST00000588594.5:c.*525A>C	ENSP00000465366.1:n.*525A>C
ENST00000590016.5:c.989A>C	ENSP00000466399.1:p.Asp330Ala
ENST00000591723.5:c.372+190A>C	ENSP00000467986.1:n.372+190A>C
ENST00000592181.1:c.546+190A>C	ENSP00000464799.1:n.546+190A>C
ENST00000593039.5:c.426+190A>C	ENSP00000466834.1:n.426+190A>C
NM_001142571.1:c.989A>C	NP_001136043.1:p.Asp330Ala
NM_002878.3:c.929A>C , LRG_516t1:c.929A>C	NP_002869.3:p.Asp310Ala
NM_133629.2:c.593A>C	NP_598332.1:p.Asp198Ala
NR_037711.1:n.1066A>C
NR_037712.1:n.931A>C
NR_037714.1:n.655+190A>C
NM_001142571.2:c.989A>C	NP_001136043.1:p.Asp330Ala
NM_133629.3:c.593A>C	NP_598332.1:p.Asp198Ala
NR_037711.2:n.955A>C
NR_037712.2:n.820A>C
NM_002878.4:c.929A>C MANE Select	NP_002869.3:p.Asp310Ala