Canonical Allele Identifier: CA2257361558
Community Standard Title: NM_002878.4(RAD51D):c.547C= (p.Gln183=)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35106415G= , CM000679.2:g.35106415G= GRCh38
NC_000017.10:g.33433434G= , CM000679.1:g.33433434G= GRCh37
NC_000017.9:g.30457547G= NCBI36
NG_031858.1:g.18455C= , LRG_516:g.18455C=

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.547C= MANE Select NP_002869.3:p.Gln183=
ENST00000345365.11:c.547C= MANE Select ENSP00000338790.6:p.Gln183=
NM_001142571.1:c.607C= NP_001136043.1:p.Gln203=
NM_001142571.2:c.607C= NP_001136043.1:p.Gln203=
NM_002878.3:c.547C= , LRG_516t1:c.547C= NP_002869.3:p.Gln183=
NM_133629.2:c.211C= NP_598332.1:p.Gln71=
NM_133629.3:c.211C= NP_598332.1:p.Gln71=
NR_037711.1:n.684C=
NR_037711.2:n.573C=
NR_037712.1:n.549C=
NR_037712.2:n.438C=
NR_037714.1:n.299C=
ENST00000335858.11:c.211C= ENSP00000338408.6:p.Gln71=
ENST00000345365.10:c.547C= ENSP00000338790.6:p.Gln183=
ENST00000394589.8:c.547C= ENSP00000378090.4:p.Gln183=
ENST00000415064.6:n.697C=
ENST00000460118.6:c.16C= ENSP00000464356.2:p.Gln6=
ENST00000585947.5:n.443C=
ENST00000585982.5:n.567C=
ENST00000586044.5:c.*278C= ENSP00000465584.1:n.*278C=
ENST00000586186.3:c.412C= ENSP00000468273.3:p.Gln138=
ENST00000586210.5:c.*141C= ENSP00000465612.1:n.*141C=
ENST00000587405.5:c.190C= ENSP00000466478.1:p.Gln64=
ENST00000587405.6:c.190C= ENSP00000466478.2:p.Gln64=
ENST00000587977.5:c.*287C= ENSP00000466587.1:n.*287C=
ENST00000587982.5:n.340C=
ENST00000588372.5:c.190C= ENSP00000468764.1:p.Gln64=
ENST00000588594.5:c.*143C= ENSP00000465366.1:n.*143C=
ENST00000590016.5:c.607C= ENSP00000466399.1:p.Gln203=
ENST00000590016.6:c.607C= ENSP00000466399.1:p.Gln203=
ENST00000590631.1:c.16C= ENSP00000465033.1:p.Gln6=
ENST00000590631.2:n.503C=
ENST00000591723.5:c.16C= ENSP00000467986.1:p.Gln6=
ENST00000592181.1:c.190C= ENSP00000464799.1:p.Gln64=
ENST00000592430.5:n.516C=
ENST00000592577.5:c.553C= ENSP00000466839.1:p.Gln185=
ENST00000592577.6:c.190C= ENSP00000466839.2:p.Gln64=
ENST00000593039.5:c.70C= ENSP00000466834.1:p.Gln24=