Canonical Allele Identifier: CA8677185
Community Standard Title: NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58694999A>G , CM000679.2:g.58694999A>G GRCh38
NC_000017.10:g.56772360A>G , CM000679.1:g.56772360A>G GRCh37
NC_000017.9:g.54127359A>G NCBI36
NG_023199.1:g.7398A>G , LRG_314:g.7398A>G
NG_047169.1:g.2081T>C

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.214A>G MANE Select NP_478123.1:p.Lys72Glu
ENST00000337432.9:c.214A>G MANE Select ENSP00000336701.4:p.Lys72Glu
NM_002876.3:c.214A>G NP_002867.1:p.Lys72Glu
NM_002876.4:c.214A>G NP_002867.1:p.Lys72Glu
NM_058216.2:c.214A>G NP_478123.1:p.Lys72Glu
NR_103872.1:n.285A>G
NR_103872.2:n.256A>G
NR_103873.1:n.182A>G
ENST00000337432.8:c.214A>G ENSP00000336701.4:p.Lys72Glu
ENST00000421782.3:c.214A>G ENSP00000391450.2:p.Lys72Glu
ENST00000425173.5:c.10A>G ENSP00000407282.1:p.Lys4Glu
ENST00000461271.5:c.-138A>G ENSP00000464056.1:n.-138A>G
ENST00000461271.6:c.-138A>G ENSP00000464056.2:n.-138A>G
ENST00000475762.5:c.*917A>G ENSP00000432421.1:n.*917A>G
ENST00000482007.5:c.214A>G ENSP00000433332.1:p.Lys72Glu
ENST00000486827.1:c.*1078A>G ENSP00000436761.1:n.*1078A>G
ENST00000487525.5:c.214A>G ENSP00000431637.1:p.Lys72Glu
ENST00000487921.5:n.126A>G
ENST00000583539.5:c.214A>G ENSP00000463121.1:p.Lys72Glu
ENST00000584617.5:c.127-1694A>G
ENST00000697675.1:n.1308A>G
ENST00000697676.1:n.274A>G
ENST00000697677.1:n.1295A>G
ENST00000697678.1:n.116A>G
ENST00000697679.1:n.1288A>G
ENST00000697680.1:c.*1078A>G ENSP00000513392.1:n.*1078A>G
ENST00000697681.1:c.*1078A>G ENSP00000513393.1:n.*1078A>G
ENST00000697683.1:c.*1078A>G ENSP00000513395.1:n.*1078A>G
ENST00000697684.1:n.274A>G
ENST00000697685.1:c.*1078A>G ENSP00000513396.1:n.*1078A>G
ENST00000697686.1:c.-138A>G ENSP00000513397.1:n.-138A>G
ENST00000697687.1:n.260A>G
ENST00000697688.1:n.260A>G
ENST00000697689.1:c.*917A>G ENSP00000513398.1:n.*917A>G
ENST00000697690.1:c.214A>G ENSP00000513399.1:p.Lys72Glu
ENST00000697691.1:c.*186A>G ENSP00000513400.1:n.*186A>G
ENST00000697692.1:c.*226A>G ENSP00000513401.1:n.*226A>G
ENST00000697693.1:n.989A>G
ENST00000697694.1:c.-138A>G ENSP00000513402.1:n.-138A>G
ENST00000697695.1:n.821A>G
XM_006722001.2:c.214A>G XP_006722064.1:p.Lys72Glu
XM_006722001.4:c.214A>G XP_006722064.1:p.Lys72Glu
XM_006722002.2:c.214A>G XP_006722065.1:p.Lys72Glu
XM_006722002.4:c.214A>G XP_006722065.1:p.Lys72Glu
XM_006722004.2:c.-138A>G XP_006722067.1:n.-138A>G
XM_006722004.3:c.-138A>G XP_006722067.1:n.-138A>G
XM_006722005.2:c.-138A>G XP_006722068.1:n.-138A>G
XM_006722005.3:c.-138A>G XP_006722068.1:n.-138A>G
XM_011525092.1:c.-138A>G XP_011523394.1:n.-138A>G
XM_011525092.2:c.-138A>G XP_011523394.1:n.-138A>G
XM_011525093.1:c.-138A>G XP_011523395.1:n.-138A>G
XM_011525093.2:c.-138A>G XP_011523395.1:n.-138A>G
XM_011525094.1:c.-138A>G XP_011523396.1:n.-138A>G
XM_011525094.2:c.-138A>G XP_011523396.1:n.-138A>G
XM_017024914.1:c.-138A>G XP_016880403.1:n.-138A>G
XM_017024915.1:c.-138A>G XP_016880404.1:n.-138A>G
XM_017024916.1:c.-138A>G XP_016880405.1:n.-138A>G
XM_017024917.1:c.-138A>G XP_016880406.1:n.-138A>G
XM_017024918.2:c.-138A>G XP_016880407.1:n.-138A>G
XM_017024919.1:c.-138A>G XP_016880408.1:n.-138A>G
XR_934513.1:n.287A>G
XR_934513.3:n.718A>G
XR_934514.1:n.287A>G
XR_934514.3:n.718A>G