Canonical Allele Identifier: CA499732383
Community Standard Title: NM_002878.4(RAD51D):c.141C>T (p.Tyr47=)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35119114G>A , CM000679.2:g.35119114G>A GRCh38
NC_000017.10:g.33446133G>A , CM000679.1:g.33446133G>A GRCh37
NC_000017.9:g.30470246G>A NCBI36
NG_031858.1:g.5756C>T , LRG_516:g.5756C>T
NG_054719.1:g.2536G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.141C>T MANE Select NP_002869.3:p.Tyr47=
ENST00000345365.11:c.141C>T MANE Select ENSP00000338790.6:p.Tyr47=
NM_001142571.1:c.141C>T NP_001136043.1:p.Tyr47=
NM_001142571.2:c.141C>T NP_001136043.1:p.Tyr47=
NM_002878.3:c.141C>T , LRG_516t1:c.141C>T NP_002869.3:p.Tyr47=
NM_133629.2:c.141C>T NP_598332.1:p.Tyr47=
NM_133629.3:c.141C>T NP_598332.1:p.Tyr47=
NR_037711.1:n.397C>T
NR_037711.2:n.286C>T
NR_037712.1:n.397C>T
NR_037712.2:n.286C>T
NR_037714.1:n.232+2177C>T
ENST00000335858.11:c.141C>T ENSP00000338408.6:p.Tyr47=
ENST00000345365.10:c.141C>T ENSP00000338790.6:p.Tyr47=
ENST00000394589.8:c.141C>T ENSP00000378090.4:p.Tyr47=
ENST00000415064.6:n.291C>T
ENST00000460118.6:c.-211C>T ENSP00000464356.2:n.-211C>T
ENST00000585343.5:c.44C>T
ENST00000585947.5:n.159+2177C>T
ENST00000585982.5:n.236C>T
ENST00000586044.5:c.141C>T ENSP00000465584.1:p.Tyr47=
ENST00000586186.2:c.44C>T
ENST00000586186.3:c.141C>T ENSP00000468273.3:p.Tyr47=
ENST00000586210.5:c.141C>T ENSP00000465612.1:p.Tyr47=
ENST00000587405.5:c.-95+2177C>T ENSP00000466478.1:n.-95+2177C>T
ENST00000587405.6:c.-95+2177C>T ENSP00000466478.2:n.-95+2177C>T
ENST00000587977.5:c.141C>T ENSP00000466587.1:p.Tyr47=
ENST00000587982.5:n.191+2177C>T
ENST00000588372.5:c.-95+2177C>T ENSP00000468764.1:n.-95+2177C>T
ENST00000588594.5:c.141C>T ENSP00000465366.1:p.Tyr47=
ENST00000589506.1:n.352C>T
ENST00000590016.5:c.141C>T ENSP00000466399.1:p.Tyr47=
ENST00000590016.6:c.141C>T ENSP00000466399.1:p.Tyr47=
ENST00000590631.1:c.-55C>T ENSP00000465033.1:n.-55C>T
ENST00000590631.2:n.433C>T
ENST00000591723.5:c.-134+2177C>T ENSP00000467986.1:n.-134+2177C>T
ENST00000592181.1:c.-98C>T ENSP00000464799.1:n.-98C>T
ENST00000592430.5:n.232+2177C>T
ENST00000592577.5:c.147C>T ENSP00000466839.1:p.Tyr49=
ENST00000592577.6:c.-217C>T ENSP00000466839.2:n.-217C>T
ENST00000592850.5:c.44C>T
ENST00000592928.2:n.44C>T
ENST00000593039.5:c.3+2177C>T ENSP00000466834.1:n.3+2177C>T