Canonical Allele Identifier: CA16615338

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 410546
• ClinVar RCV Id: RCV000463087 ; RCV000478788 ; RCV000574341 ; RCV000781804
• dbSNP Id: rs374730714
• gnomAD v4: 17-35119124-C-G
• MyVariant Identifiers: chr17:g.33446143C>G (hg19) ; chr17:g.35119124C>G (hg38)
• PubMed: PMID:26261251

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35119124C>G , CM000679.2:g.35119124C>G	GRCh38
NC_000017.10:g.33446143C>G , CM000679.1:g.33446143C>G	GRCh37
NC_000017.9:g.30470256C>G	NCBI36
NG_031858.1:g.5746G>C , LRG_516:g.5746G>C
NG_054719.1:g.2546C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000586186.3:c.131G>C	ENSP00000468273.3:p.Gly44Ala
ENST00000587405.6:c.-95+2167G>C	ENSP00000466478.2:n.-95+2167G>C
ENST00000590016.6:c.131G>C	ENSP00000466399.1:p.Gly44Ala
ENST00000590631.2:n.423G>C
ENST00000592577.6:c.-227G>C	ENSP00000466839.2:n.-227G>C
ENST00000345365.11:c.131G>C MANE Select	ENSP00000338790.6:p.Gly44Ala
ENST00000335858.11:c.131G>C	ENSP00000338408.6:p.Gly44Ala
ENST00000345365.10:c.131G>C	ENSP00000338790.6:p.Gly44Ala
ENST00000394589.8:c.131G>C	ENSP00000378090.4:p.Gly44Ala
ENST00000415064.6:n.281G>C
ENST00000460118.6:c.-221G>C	ENSP00000464356.2:n.-221G>C
ENST00000585343.5:c.34G>C
ENST00000585947.5:n.159+2167G>C
ENST00000585982.5:n.226G>C
ENST00000586044.5:c.131G>C	ENSP00000465584.1:p.Gly44Ala
ENST00000586186.2:c.34G>C
ENST00000586210.5:c.131G>C	ENSP00000465612.1:p.Gly44Ala
ENST00000587405.5:c.-95+2167G>C	ENSP00000466478.1:n.-95+2167G>C
ENST00000587977.5:c.131G>C	ENSP00000466587.1:p.Gly44Ala
ENST00000587982.5:n.191+2167G>C
ENST00000588372.5:c.-95+2167G>C	ENSP00000468764.1:n.-95+2167G>C
ENST00000588594.5:c.131G>C	ENSP00000465366.1:p.Gly44Ala
ENST00000589506.1:n.342G>C
ENST00000590016.5:c.131G>C	ENSP00000466399.1:p.Gly44Ala
ENST00000590631.1:c.-65G>C	ENSP00000465033.1:n.-65G>C
ENST00000591723.5:c.-134+2167G>C	ENSP00000467986.1:n.-134+2167G>C
ENST00000592181.1:c.-108G>C	ENSP00000464799.1:n.-108G>C
ENST00000592430.5:n.232+2167G>C
ENST00000592577.5:c.137G>C	ENSP00000466839.1:p.Gly46Ala
ENST00000592850.5:c.34G>C
ENST00000592928.2:n.34G>C
ENST00000593039.5:c.3+2167G>C	ENSP00000466834.1:n.3+2167G>C
NM_001142571.1:c.131G>C	NP_001136043.1:p.Gly44Ala
NM_002878.3:c.131G>C , LRG_516t1:c.131G>C	NP_002869.3:p.Gly44Ala
NM_133629.2:c.131G>C	NP_598332.1:p.Gly44Ala
NR_037711.1:n.387G>C
NR_037712.1:n.387G>C
NR_037714.1:n.232+2167G>C
NM_001142571.2:c.131G>C	NP_001136043.1:p.Gly44Ala
NM_133629.3:c.131G>C	NP_598332.1:p.Gly44Ala
NR_037711.2:n.276G>C
NR_037712.2:n.276G>C
NM_002878.4:c.131G>C MANE Select	NP_002869.3:p.Gly44Ala