Canonical Allele Identifier: CA400366019
Community Standard Title: NM_058216.3(RAD51C):c.1048G>C (p.Val350Leu)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58734139G>C , CM000679.2:g.58734139G>C GRCh38
NC_000017.10:g.56811500G>C , CM000679.1:g.56811500G>C GRCh37
NC_000017.9:g.54166499G>C NCBI36
NG_023199.1:g.46538G>C , LRG_314:g.46538G>C

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.1048G>C MANE Select NP_478123.1:p.Val350Leu
ENST00000337432.9:c.1048G>C MANE Select ENSP00000336701.4:p.Val350Leu
NM_058216.2:c.1048G>C NP_478123.1:p.Val350Leu
NR_103872.1:n.952G>C
NR_103872.2:n.923G>C
ENST00000337432.8:c.1048G>C ENSP00000336701.4:p.Val350Leu
ENST00000413590.5:c.689G>C
ENST00000461271.6:c.*1580G>C ENSP00000464056.2:n.*1580G>C
ENST00000461706.1:n.235G>C
ENST00000475762.5:c.*1684G>C ENSP00000432421.1:n.*1684G>C
ENST00000482007.5:c.*476G>C ENSP00000433332.1:n.*476G>C
ENST00000487525.5:c.*624G>C ENSP00000431637.1:n.*624G>C
ENST00000578151.1:n.261G>C
ENST00000581221.5:n.563G>C
ENST00000584804.1:c.282G>C ENSP00000463658.1:p.Leu94=
ENST00000697680.1:c.*2012G>C ENSP00000513392.1:n.*2012G>C
ENST00000697681.1:c.*2209G>C ENSP00000513393.1:n.*2209G>C
ENST00000697683.1:c.*1984G>C ENSP00000513395.1:n.*1984G>C
ENST00000697685.1:c.*1745G>C ENSP00000513396.1:n.*1745G>C
ENST00000697686.1:c.819G>C ENSP00000513397.1:p.Leu273=
ENST00000697689.1:c.*1462G>C ENSP00000513398.1:n.*1462G>C
ENST00000697690.1:c.*8G>C ENSP00000513399.1:n.*8G>C
ENST00000697691.1:c.*1020G>C ENSP00000513400.1:n.*1020G>C
ENST00000697692.1:c.*1060G>C ENSP00000513401.1:n.*1060G>C
ENST00000697694.1:c.697G>C ENSP00000513402.1:p.Val233Leu
ENST00000697695.1:n.1655G>C
XM_006722001.2:c.1051G>C XP_006722064.1:p.Val351Leu
XM_006722001.4:c.1051G>C XP_006722064.1:p.Val351Leu
XM_006722002.2:c.987G>C XP_006722065.1:p.Leu329=
XM_006722002.4:c.987G>C XP_006722065.1:p.Leu329=
XM_006722004.2:c.700G>C XP_006722067.1:p.Val234Leu
XM_006722004.3:c.700G>C XP_006722067.1:p.Val234Leu
XM_006722005.2:c.700G>C XP_006722068.1:p.Val234Leu
XM_006722005.3:c.700G>C XP_006722068.1:p.Val234Leu
XM_011525092.1:c.700G>C XP_011523394.1:p.Val234Leu
XM_011525092.2:c.700G>C XP_011523394.1:p.Val234Leu
XM_011525093.1:c.700G>C XP_011523395.1:p.Val234Leu
XM_011525093.2:c.700G>C XP_011523395.1:p.Val234Leu
XM_011525094.1:c.700G>C XP_011523396.1:p.Val234Leu
XM_011525094.2:c.700G>C XP_011523396.1:p.Val234Leu
XM_017024914.1:c.697G>C XP_016880403.1:p.Val233Leu
XM_017024915.1:c.697G>C XP_016880404.1:p.Val233Leu
XM_017024916.1:c.697G>C XP_016880405.1:p.Val233Leu
XM_017024917.1:c.697G>C XP_016880406.1:p.Val233Leu
XM_017024918.2:c.697G>C XP_016880407.1:p.Val233Leu
XM_017024919.1:c.636G>C XP_016880408.1:p.Leu212=
XR_934513.1:n.1266G>C
XR_934513.3:n.1697G>C
XR_934514.1:n.1269G>C
XR_934514.3:n.1700G>C
XR_934886.1:n.149+3932C>G
XR_934886.2:n.149+3932C>G