Canonical Allele Identifier: CA499728580
Community Standard Title: NM_002878.4(RAD51D):c.972G>A (p.Gln324=)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35100968C>T , CM000679.2:g.35100968C>T GRCh38
NC_000017.10:g.33427987C>T , CM000679.1:g.33427987C>T GRCh37
NC_000017.9:g.30452100C>T NCBI36
NG_031858.1:g.23902G>A , LRG_516:g.23902G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.972G>A MANE Select NP_002869.3:p.Gln324=
ENST00000345365.11:c.972G>A MANE Select ENSP00000338790.6:p.Gln324=
NM_001142571.1:c.1032G>A NP_001136043.1:p.Gln344=
NM_001142571.2:c.1032G>A NP_001136043.1:p.Gln344=
NM_002878.3:c.972G>A , LRG_516t1:c.972G>A NP_002869.3:p.Gln324=
NM_133629.2:c.636G>A NP_598332.1:p.Gln212=
NM_133629.3:c.636G>A NP_598332.1:p.Gln212=
NR_037711.1:n.1109G>A
NR_037711.2:n.998G>A
NR_037712.1:n.974G>A
NR_037712.2:n.863G>A
NR_037714.1:n.655+233G>A
ENST00000335858.11:c.636G>A ENSP00000338408.6:p.Gln212=
ENST00000345365.10:c.972G>A ENSP00000338790.6:p.Gln324=
ENST00000394589.8:c.972G>A ENSP00000378090.4:p.Gln324=
ENST00000460118.6:c.441G>A ENSP00000464356.2:p.Gln147=
ENST00000586044.5:c.*703G>A ENSP00000465584.1:n.*703G>A
ENST00000586186.3:c.837G>A ENSP00000468273.3:p.Gln279=
ENST00000586210.5:c.*566G>A ENSP00000465612.1:n.*566G>A
ENST00000587405.6:c.615G>A ENSP00000466478.2:p.Gln205=
ENST00000587977.5:c.*712G>A ENSP00000466587.1:n.*712G>A
ENST00000588372.5:c.*455G>A ENSP00000468764.1:n.*455G>A
ENST00000588594.5:c.*568G>A ENSP00000465366.1:n.*568G>A
ENST00000590016.5:c.1032G>A ENSP00000466399.1:p.Gln344=
ENST00000590016.6:c.1032G>A ENSP00000466399.1:p.Gln344=
ENST00000591723.5:c.372+233G>A ENSP00000467986.1:n.372+233G>A
ENST00000592181.1:c.546+233G>A ENSP00000464799.1:n.546+233G>A
ENST00000592577.6:c.615G>A ENSP00000466839.2:p.Gln205=
ENST00000593039.5:c.426+233G>A ENSP00000466834.1:n.426+233G>A