Canonical Allele Identifier: CA287980

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 127890
• ClinVar RCV Id: RCV000115816 ; RCV000708749 ; RCV000709439 ; RCV000524784
• dbSNP Id: rs544654228
• gnomAD v4: 17-35106469-G-C
• MyVariant Identifiers: chr17:g.33433488G>C (hg19) ; chr17:g.35106469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35106469G>C , CM000679.2:g.35106469G>C	GRCh38
NC_000017.10:g.33433488G>C , CM000679.1:g.33433488G>C	GRCh37
NC_000017.9:g.30457601G>C	NCBI36
NG_031858.1:g.18401C>G , LRG_516:g.18401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586186.3:c.358C>G	ENSP00000468273.3:p.Arg120Gly
ENST00000587405.6:c.136C>G	ENSP00000466478.2:p.Arg46Gly
ENST00000590016.6:c.553C>G	ENSP00000466399.1:p.Arg185Gly
ENST00000590631.2:n.449C>G
ENST00000592577.6:c.136C>G	ENSP00000466839.2:p.Arg46Gly
ENST00000345365.11:c.493C>G MANE Select	ENSP00000338790.6:p.Arg165Gly
ENST00000335858.11:c.157C>G	ENSP00000338408.6:p.Arg53Gly
ENST00000345365.10:c.493C>G	ENSP00000338790.6:p.Arg165Gly
ENST00000394589.8:c.493C>G	ENSP00000378090.4:p.Arg165Gly
ENST00000415064.6:n.643C>G
ENST00000460118.6:c.-39C>G	ENSP00000464356.2:n.-39C>G
ENST00000585343.5:c.575C>G
ENST00000585947.5:n.389C>G
ENST00000585982.5:n.513C>G
ENST00000586044.5:c.*224C>G	ENSP00000465584.1:n.*224C>G
ENST00000586186.2:c.261C>G
ENST00000586210.5:c.*87C>G	ENSP00000465612.1:n.*87C>G
ENST00000587405.5:c.136C>G	ENSP00000466478.1:p.Arg46Gly
ENST00000587977.5:c.*233C>G	ENSP00000466587.1:n.*233C>G
ENST00000587982.5:n.286C>G
ENST00000588372.5:c.136C>G	ENSP00000468764.1:p.Arg46Gly
ENST00000588594.5:c.*89C>G	ENSP00000465366.1:n.*89C>G
ENST00000590016.5:c.553C>G	ENSP00000466399.1:p.Arg185Gly
ENST00000590631.1:c.-39C>G	ENSP00000465033.1:n.-39C>G
ENST00000591723.5:c.-39C>G	ENSP00000467986.1:n.-39C>G
ENST00000592181.1:c.136C>G	ENSP00000464799.1:p.Arg46Gly
ENST00000592430.5:n.462C>G
ENST00000592577.5:c.499C>G	ENSP00000466839.1:p.Arg167Gly
ENST00000592850.5:c.358C>G
ENST00000592928.2:n.179C>G
ENST00000593039.5:c.16C>G	ENSP00000466834.1:p.Arg6Gly
NM_001142571.1:c.553C>G	NP_001136043.1:p.Arg185Gly
NM_002878.3:c.493C>G , LRG_516t1:c.493C>G	NP_002869.3:p.Arg165Gly
NM_133629.2:c.157C>G	NP_598332.1:p.Arg53Gly
NR_037711.1:n.630C>G
NR_037712.1:n.495C>G
NR_037714.1:n.245C>G
NM_001142571.2:c.553C>G	NP_001136043.1:p.Arg185Gly
NM_133629.3:c.157C>G	NP_598332.1:p.Arg53Gly
NR_037711.2:n.519C>G
NR_037712.2:n.384C>G
NM_002878.4:c.493C>G MANE Select	NP_002869.3:p.Arg165Gly