Canonical Allele Identifier: CA246662

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 127892
• ClinVar RCV Id: RCV000115818 ; RCV000205150 ; RCV000586998
• dbSNP Id: rs80116829
• ExAC: 17:33433413 C / T
• gnomAD v2: 17-33433413-C-T
• gnomAD v3: 17-35106394-C-T
• gnomAD v4: 17-35106394-C-T
• MyVariant Identifiers: chr17:g.33433413C>T (hg19) ; chr17:g.35106394C>T (hg38)
• PubMed: PMID:25186627 ; PMID:25980754 ; PMID:26261251 ; PMID:27878467

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35106394C>T , CM000679.2:g.35106394C>T	GRCh38
NC_000017.10:g.33433413C>T , CM000679.1:g.33433413C>T	GRCh37
NC_000017.9:g.30457526C>T	NCBI36
NG_031858.1:g.18476G>A , LRG_516:g.18476G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000586186.3:c.433G>A	ENSP00000468273.3:p.Ala145Thr
ENST00000587405.6:c.211G>A	ENSP00000466478.2:p.Ala71Thr
ENST00000590016.6:c.628G>A	ENSP00000466399.1:p.Ala210Thr
ENST00000590631.2:n.524G>A
ENST00000592577.6:c.211G>A	ENSP00000466839.2:p.Ala71Thr
ENST00000345365.11:c.568G>A MANE Select	ENSP00000338790.6:p.Ala190Thr
ENST00000335858.11:c.232G>A	ENSP00000338408.6:p.Ala78Thr
ENST00000345365.10:c.568G>A	ENSP00000338790.6:p.Ala190Thr
ENST00000394589.8:c.568G>A	ENSP00000378090.4:p.Ala190Thr
ENST00000415064.6:n.718G>A
ENST00000460118.6:c.37G>A	ENSP00000464356.2:p.Ala13Thr
ENST00000585947.5:n.464G>A
ENST00000585982.5:n.588G>A
ENST00000586044.5:c.*299G>A	ENSP00000465584.1:n.*299G>A
ENST00000586210.5:c.*162G>A	ENSP00000465612.1:n.*162G>A
ENST00000587405.5:c.211G>A	ENSP00000466478.1:p.Ala71Thr
ENST00000587977.5:c.*308G>A	ENSP00000466587.1:n.*308G>A
ENST00000587982.5:n.361G>A
ENST00000588372.5:c.211G>A	ENSP00000468764.1:p.Ala71Thr
ENST00000588594.5:c.*164G>A	ENSP00000465366.1:n.*164G>A
ENST00000590016.5:c.628G>A	ENSP00000466399.1:p.Ala210Thr
ENST00000590631.1:c.37G>A	ENSP00000465033.1:p.Ala13Thr
ENST00000591723.5:c.37G>A	ENSP00000467986.1:p.Ala13Thr
ENST00000592181.1:c.211G>A	ENSP00000464799.1:p.Ala71Thr
ENST00000592430.5:n.537G>A
ENST00000592577.5:c.574G>A	ENSP00000466839.1:p.Ala192Thr
ENST00000593039.5:c.91G>A	ENSP00000466834.1:p.Ala31Thr
NM_001142571.1:c.628G>A	NP_001136043.1:p.Ala210Thr
NM_002878.3:c.568G>A , LRG_516t1:c.568G>A	NP_002869.3:p.Ala190Thr
NM_133629.2:c.232G>A	NP_598332.1:p.Ala78Thr
NR_037711.1:n.705G>A
NR_037712.1:n.570G>A
NR_037714.1:n.320G>A
NM_001142571.2:c.628G>A	NP_001136043.1:p.Ala210Thr
NM_133629.3:c.232G>A	NP_598332.1:p.Ala78Thr
NR_037711.2:n.594G>A
NR_037712.2:n.459G>A
NM_002878.4:c.568G>A MANE Select	NP_002869.3:p.Ala190Thr