Canonical Allele Identifier: CA2257361826
Community Standard Title: NM_002878.4(RAD51D):c.478C= (p.Gln160=)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35106990G= , CM000679.2:g.35106990G= GRCh38
NC_000017.10:g.33434009G= , CM000679.1:g.33434009G= GRCh37
NC_000017.9:g.30458122G= NCBI36
NG_031858.1:g.17880C= , LRG_516:g.17880C=

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.478C= MANE Select NP_002869.3:p.Gln160=
ENST00000345365.11:c.478C= MANE Select ENSP00000338790.6:p.Gln160=
NM_001142571.1:c.538C= NP_001136043.1:p.Gln180=
NM_001142571.2:c.538C= NP_001136043.1:p.Gln180=
NM_002878.3:c.478C= , LRG_516t1:c.478C= NP_002869.3:p.Gln160=
NM_133629.2:c.145-509C= NP_598332.1:n.145-509C=
NM_133629.3:c.145-509C= NP_598332.1:n.145-509C=
NR_037711.1:n.615C=
NR_037711.2:n.504C=
NR_037712.1:n.482+376C=
NR_037712.2:n.371+376C=
NR_037714.1:n.233-509C=
ENST00000335858.11:c.145-509C= ENSP00000338408.6:n.145-509C=
ENST00000345365.10:c.478C= ENSP00000338790.6:p.Gln160=
ENST00000394589.8:c.478C= ENSP00000378090.4:p.Gln160=
ENST00000415064.6:n.628C=
ENST00000460118.6:c.-54C= ENSP00000464356.2:n.-54C=
ENST00000585343.5:c.560C=
ENST00000585947.5:n.374C=
ENST00000585982.5:n.500+376C=
ENST00000586044.5:c.*209C= ENSP00000465584.1:n.*209C=
ENST00000586186.2:c.248+376C=
ENST00000586186.3:c.345+376C= ENSP00000468273.3:n.345+376C=
ENST00000586210.5:c.*72C= ENSP00000465612.1:n.*72C=
ENST00000587405.5:c.121C= ENSP00000466478.1:p.Gln41=
ENST00000587405.6:c.121C= ENSP00000466478.2:p.Gln41=
ENST00000587977.5:c.*218C= ENSP00000466587.1:n.*218C=
ENST00000587982.5:n.273+376C=
ENST00000588372.5:c.121C= ENSP00000468764.1:p.Gln41=
ENST00000588594.5:c.*76+376C= ENSP00000465366.1:n.*76+376C=
ENST00000590016.5:c.538C= ENSP00000466399.1:p.Gln180=
ENST00000590016.6:c.538C= ENSP00000466399.1:p.Gln180=
ENST00000590631.1:c.-51-509C= ENSP00000465033.1:n.-51-509C=
ENST00000590631.2:n.437-509C=
ENST00000591723.5:c.-52+376C= ENSP00000467986.1:n.-52+376C=
ENST00000592181.1:c.121C= ENSP00000464799.1:p.Gln41=
ENST00000592430.5:n.447C=
ENST00000592577.5:c.484C= ENSP00000466839.1:p.Gln162=
ENST00000592577.6:c.121C= ENSP00000466839.2:p.Gln41=
ENST00000592850.5:c.346-509C=
ENST00000592928.2:n.167-509C=
ENST00000593039.5:c.4-509C= ENSP00000466834.1:n.4-509C=