Canonical Allele Identifier: CA2257359218
Community Standard Title: NM_002878.4(RAD51D):c.955C= (p.Gln319=)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35100985G= , CM000679.2:g.35100985G= GRCh38
NC_000017.10:g.33428004G= , CM000679.1:g.33428004G= GRCh37
NC_000017.9:g.30452117G= NCBI36
NG_031858.1:g.23885C= , LRG_516:g.23885C=

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.955C= MANE Select NP_002869.3:p.Gln319=
ENST00000345365.11:c.955C= MANE Select ENSP00000338790.6:p.Gln319=
NM_001142571.1:c.1015C= NP_001136043.1:p.Gln339=
NM_001142571.2:c.1015C= NP_001136043.1:p.Gln339=
NM_002878.3:c.955C= , LRG_516t1:c.955C= NP_002869.3:p.Gln319=
NM_133629.2:c.619C= NP_598332.1:p.Gln207=
NM_133629.3:c.619C= NP_598332.1:p.Gln207=
NR_037711.1:n.1092C=
NR_037711.2:n.981C=
NR_037712.1:n.957C=
NR_037712.2:n.846C=
NR_037714.1:n.655+216C=
ENST00000335858.11:c.619C= ENSP00000338408.6:p.Gln207=
ENST00000345365.10:c.955C= ENSP00000338790.6:p.Gln319=
ENST00000394589.8:c.955C= ENSP00000378090.4:p.Gln319=
ENST00000460118.6:c.424C= ENSP00000464356.2:p.Gln142=
ENST00000586044.5:c.*686C= ENSP00000465584.1:n.*686C=
ENST00000586186.3:c.820C= ENSP00000468273.3:p.Gln274=
ENST00000586210.5:c.*549C= ENSP00000465612.1:n.*549C=
ENST00000587405.6:c.598C= ENSP00000466478.2:p.Gln200=
ENST00000587977.5:c.*695C= ENSP00000466587.1:n.*695C=
ENST00000588372.5:c.*438C= ENSP00000468764.1:n.*438C=
ENST00000588594.5:c.*551C= ENSP00000465366.1:n.*551C=
ENST00000590016.5:c.1015C= ENSP00000466399.1:p.Gln339=
ENST00000590016.6:c.1015C= ENSP00000466399.1:p.Gln339=
ENST00000591723.5:c.372+216C= ENSP00000467986.1:n.372+216C=
ENST00000592181.1:c.546+216C= ENSP00000464799.1:n.546+216C=
ENST00000592577.6:c.598C= ENSP00000466839.2:p.Gln200=
ENST00000593039.5:c.426+216C= ENSP00000466834.1:n.426+216C=