Canonical Allele Identifier: CA399086122
Community Standard Title: NM_002878.4(RAD51D):c.938C>A (p.Thr313Asn)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35101002G>T , CM000679.2:g.35101002G>T GRCh38
NC_000017.10:g.33428021G>T , CM000679.1:g.33428021G>T GRCh37
NC_000017.9:g.30452134G>T NCBI36
NG_031858.1:g.23868C>A , LRG_516:g.23868C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.938C>A MANE Select NP_002869.3:p.Thr313Asn
ENST00000345365.11:c.938C>A MANE Select ENSP00000338790.6:p.Thr313Asn
NM_001142571.1:c.998C>A NP_001136043.1:p.Thr333Asn
NM_001142571.2:c.998C>A NP_001136043.1:p.Thr333Asn
NM_002878.3:c.938C>A , LRG_516t1:c.938C>A NP_002869.3:p.Thr313Asn
NM_133629.2:c.602C>A NP_598332.1:p.Thr201Asn
NM_133629.3:c.602C>A NP_598332.1:p.Thr201Asn
NR_037711.1:n.1075C>A
NR_037711.2:n.964C>A
NR_037712.1:n.940C>A
NR_037712.2:n.829C>A
NR_037714.1:n.655+199C>A
ENST00000335858.11:c.602C>A ENSP00000338408.6:p.Thr201Asn
ENST00000345365.10:c.938C>A ENSP00000338790.6:p.Thr313Asn
ENST00000394589.8:c.938C>A ENSP00000378090.4:p.Thr313Asn
ENST00000460118.6:c.407C>A ENSP00000464356.2:p.Thr136Asn
ENST00000586044.5:c.*669C>A ENSP00000465584.1:n.*669C>A
ENST00000586186.3:c.803C>A ENSP00000468273.3:p.Thr268Asn
ENST00000586210.5:c.*532C>A ENSP00000465612.1:n.*532C>A
ENST00000587405.6:c.581C>A ENSP00000466478.2:p.Thr194Asn
ENST00000587977.5:c.*678C>A ENSP00000466587.1:n.*678C>A
ENST00000588372.5:c.*421C>A ENSP00000468764.1:n.*421C>A
ENST00000588594.5:c.*534C>A ENSP00000465366.1:n.*534C>A
ENST00000590016.5:c.998C>A ENSP00000466399.1:p.Thr333Asn
ENST00000590016.6:c.998C>A ENSP00000466399.1:p.Thr333Asn
ENST00000591723.5:c.372+199C>A ENSP00000467986.1:n.372+199C>A
ENST00000592181.1:c.546+199C>A ENSP00000464799.1:n.546+199C>A
ENST00000592577.6:c.581C>A ENSP00000466839.2:p.Thr194Asn
ENST00000593039.5:c.426+199C>A ENSP00000466834.1:n.426+199C>A