Canonical Allele Identifier: CA292048882
Community Standard Title: NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58695034G>C , CM000679.2:g.58695034G>C GRCh38
NC_000017.10:g.56772395G>C , CM000679.1:g.56772395G>C GRCh37
NC_000017.9:g.54127394G>C NCBI36
NG_023199.1:g.7433G>C , LRG_314:g.7433G>C
NG_047169.1:g.2046C>G

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.249G>C MANE Select NP_478123.1:p.Lys83Asn
ENST00000337432.9:c.249G>C MANE Select ENSP00000336701.4:p.Lys83Asn
NM_002876.3:c.249G>C NP_002867.1:p.Lys83Asn
NM_002876.4:c.249G>C NP_002867.1:p.Lys83Asn
NM_058216.2:c.249G>C NP_478123.1:p.Lys83Asn
NR_103872.1:n.320G>C
NR_103872.2:n.291G>C
NR_103873.1:n.217G>C
ENST00000337432.8:c.249G>C ENSP00000336701.4:p.Lys83Asn
ENST00000421782.3:c.249G>C ENSP00000391450.2:p.Lys83Asn
ENST00000425173.5:c.45G>C ENSP00000407282.1:p.Lys15Asn
ENST00000461271.5:c.-103G>C ENSP00000464056.1:n.-103G>C
ENST00000461271.6:c.-103G>C ENSP00000464056.2:n.-103G>C
ENST00000475762.5:c.*952G>C ENSP00000432421.1:n.*952G>C
ENST00000482007.5:c.249G>C ENSP00000433332.1:p.Lys83Asn
ENST00000486827.1:c.*1113G>C ENSP00000436761.1:n.*1113G>C
ENST00000487525.5:c.249G>C ENSP00000431637.1:p.Lys83Asn
ENST00000487921.5:n.161G>C
ENST00000583539.5:c.249G>C ENSP00000463121.1:p.Lys83Asn
ENST00000584617.5:c.127-1659G>C
ENST00000697675.1:n.1343G>C
ENST00000697676.1:n.309G>C
ENST00000697677.1:n.1330G>C
ENST00000697678.1:n.151G>C
ENST00000697679.1:n.1323G>C
ENST00000697680.1:c.*1113G>C ENSP00000513392.1:n.*1113G>C
ENST00000697681.1:c.*1113G>C ENSP00000513393.1:n.*1113G>C
ENST00000697683.1:c.*1113G>C ENSP00000513395.1:n.*1113G>C
ENST00000697684.1:n.309G>C
ENST00000697685.1:c.*1113G>C ENSP00000513396.1:n.*1113G>C
ENST00000697686.1:c.-103G>C ENSP00000513397.1:n.-103G>C
ENST00000697687.1:n.295G>C
ENST00000697688.1:n.295G>C
ENST00000697689.1:c.*952G>C ENSP00000513398.1:n.*952G>C
ENST00000697690.1:c.249G>C ENSP00000513399.1:p.Lys83Asn
ENST00000697691.1:c.*221G>C ENSP00000513400.1:n.*221G>C
ENST00000697692.1:c.*261G>C ENSP00000513401.1:n.*261G>C
ENST00000697693.1:n.1024G>C
ENST00000697694.1:c.-103G>C ENSP00000513402.1:n.-103G>C
ENST00000697695.1:n.856G>C
XM_006722001.2:c.249G>C XP_006722064.1:p.Lys83Asn
XM_006722001.4:c.249G>C XP_006722064.1:p.Lys83Asn
XM_006722002.2:c.249G>C XP_006722065.1:p.Lys83Asn
XM_006722002.4:c.249G>C XP_006722065.1:p.Lys83Asn
XM_006722004.2:c.-103G>C XP_006722067.1:n.-103G>C
XM_006722004.3:c.-103G>C XP_006722067.1:n.-103G>C
XM_006722005.2:c.-103G>C XP_006722068.1:n.-103G>C
XM_006722005.3:c.-103G>C XP_006722068.1:n.-103G>C
XM_011525092.1:c.-103G>C XP_011523394.1:n.-103G>C
XM_011525092.2:c.-103G>C XP_011523394.1:n.-103G>C
XM_011525093.1:c.-103G>C XP_011523395.1:n.-103G>C
XM_011525093.2:c.-103G>C XP_011523395.1:n.-103G>C
XM_011525094.1:c.-103G>C XP_011523396.1:n.-103G>C
XM_011525094.2:c.-103G>C XP_011523396.1:n.-103G>C
XM_017024914.1:c.-103G>C XP_016880403.1:n.-103G>C
XM_017024915.1:c.-103G>C XP_016880404.1:n.-103G>C
XM_017024916.1:c.-103G>C XP_016880405.1:n.-103G>C
XM_017024917.1:c.-103G>C XP_016880406.1:n.-103G>C
XM_017024918.2:c.-103G>C XP_016880407.1:n.-103G>C
XM_017024919.1:c.-103G>C XP_016880408.1:n.-103G>C
XR_934513.1:n.322G>C
XR_934513.3:n.753G>C
XR_934514.1:n.322G>C
XR_934514.3:n.753G>C