Canonical Allele Identifier: CA299936
Community Standard Title: NM_002878.4(RAD51D):c.607G>A (p.Val203Met)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35103514C>T , CM000679.2:g.35103514C>T GRCh38
NC_000017.10:g.33430533C>T , CM000679.1:g.33430533C>T GRCh37
NC_000017.9:g.30454646C>T NCBI36
NG_031858.1:g.21356G>A , LRG_516:g.21356G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.607G>A MANE Select NP_002869.3:p.Val203Met
ENST00000345365.11:c.607G>A MANE Select ENSP00000338790.6:p.Val203Met
NM_001142571.1:c.667G>A NP_001136043.1:p.Val223Met
NM_001142571.2:c.667G>A NP_001136043.1:p.Val223Met
NM_002878.3:c.607G>A , LRG_516t1:c.607G>A NP_002869.3:p.Val203Met
NM_133629.2:c.271G>A NP_598332.1:p.Val91Met
NM_133629.3:c.271G>A NP_598332.1:p.Val91Met
NR_037711.1:n.744G>A
NR_037711.2:n.633G>A
NR_037712.1:n.609G>A
NR_037712.2:n.498G>A
NR_037714.1:n.359G>A
ENST00000335858.11:c.271G>A ENSP00000338408.6:p.Val91Met
ENST00000345365.10:c.607G>A ENSP00000338790.6:p.Val203Met
ENST00000394589.8:c.607G>A ENSP00000378090.4:p.Val203Met
ENST00000460118.6:c.76G>A ENSP00000464356.2:p.Val26Met
ENST00000586044.5:c.*338G>A ENSP00000465584.1:n.*338G>A
ENST00000586186.3:c.472G>A ENSP00000468273.3:p.Val158Met
ENST00000586210.5:c.*201G>A ENSP00000465612.1:n.*201G>A
ENST00000587405.5:c.250G>A ENSP00000466478.1:p.Val84Met
ENST00000587405.6:c.250G>A ENSP00000466478.2:p.Val84Met
ENST00000587977.5:c.*347G>A ENSP00000466587.1:n.*347G>A
ENST00000588372.5:c.*90G>A ENSP00000468764.1:n.*90G>A
ENST00000588594.5:c.*203G>A ENSP00000465366.1:n.*203G>A
ENST00000590016.5:c.667G>A ENSP00000466399.1:p.Val223Met
ENST00000590016.6:c.667G>A ENSP00000466399.1:p.Val223Met
ENST00000591723.5:c.76G>A ENSP00000467986.1:p.Val26Met
ENST00000592181.1:c.250G>A ENSP00000464799.1:p.Val84Met
ENST00000592577.5:c.613G>A ENSP00000466839.1:p.Val205Met
ENST00000592577.6:c.250G>A ENSP00000466839.2:p.Val84Met
ENST00000593039.5:c.130G>A ENSP00000466834.1:p.Val44Met