Canonical Allele Identifier: CA2257360226
Community Standard Title: NM_002878.4(RAD51D):c.694C= (p.Arg232=)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35103298G= , CM000679.2:g.35103298G= GRCh38
NC_000017.10:g.33430317G= , CM000679.1:g.33430317G= GRCh37
NC_000017.9:g.30454430G= NCBI36
NG_031858.1:g.21572C= , LRG_516:g.21572C=

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.694C= MANE Select NP_002869.3:p.Arg232=
ENST00000345365.11:c.694C= MANE Select ENSP00000338790.6:p.Arg232=
NM_001142571.1:c.754C= NP_001136043.1:p.Arg252=
NM_001142571.2:c.754C= NP_001136043.1:p.Arg252=
NM_002878.3:c.694C= , LRG_516t1:c.694C= NP_002869.3:p.Arg232=
NM_133629.2:c.358C= NP_598332.1:p.Arg120=
NM_133629.3:c.358C= NP_598332.1:p.Arg120=
NR_037711.1:n.831C=
NR_037711.2:n.720C=
NR_037712.1:n.696C=
NR_037712.2:n.585C=
NR_037714.1:n.446C=
ENST00000335858.11:c.358C= ENSP00000338408.6:p.Arg120=
ENST00000345365.10:c.694C= ENSP00000338790.6:p.Arg232=
ENST00000394589.8:c.694C= ENSP00000378090.4:p.Arg232=
ENST00000460118.6:c.163C= ENSP00000464356.2:p.Arg55=
ENST00000586044.5:c.*425C= ENSP00000465584.1:n.*425C=
ENST00000586186.3:c.559C= ENSP00000468273.3:p.Arg187=
ENST00000586210.5:c.*288C= ENSP00000465612.1:n.*288C=
ENST00000587405.5:c.337C= ENSP00000466478.1:p.Arg113=
ENST00000587405.6:c.337C= ENSP00000466478.2:p.Arg113=
ENST00000587977.5:c.*434C= ENSP00000466587.1:n.*434C=
ENST00000588372.5:c.*177C= ENSP00000468764.1:n.*177C=
ENST00000588594.5:c.*290C= ENSP00000465366.1:n.*290C=
ENST00000590016.5:c.754C= ENSP00000466399.1:p.Arg252=
ENST00000590016.6:c.754C= ENSP00000466399.1:p.Arg252=
ENST00000591723.5:c.163C= ENSP00000467986.1:p.Arg55=
ENST00000592181.1:c.337C= ENSP00000464799.1:p.Arg113=
ENST00000592577.5:c.700C= ENSP00000466839.1:p.Arg234=
ENST00000592577.6:c.337C= ENSP00000466839.2:p.Arg113=
ENST00000593039.5:c.217C= ENSP00000466834.1:p.Arg73=