Canonical Allele Identifier: CA400353475
Community Standard Title: NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58709893C>T , CM000679.2:g.58709893C>T GRCh38
NC_000017.10:g.56787254C>T , CM000679.1:g.56787254C>T GRCh37
NC_000017.9:g.54142253C>T NCBI36
NG_023199.1:g.22292C>T , LRG_314:g.22292C>T

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.740C>T MANE Select NP_478123.1:p.Pro247Leu
ENST00000337432.9:c.740C>T MANE Select ENSP00000336701.4:p.Pro247Leu
NM_058216.2:c.740C>T NP_478123.1:p.Pro247Leu
NR_103872.1:n.644C>T
NR_103872.2:n.615C>T
ENST00000337432.8:c.740C>T ENSP00000336701.4:p.Pro247Leu
ENST00000413590.5:c.378C>T
ENST00000461271.5:c.389C>T ENSP00000464056.1:p.Pro130Leu
ENST00000461271.6:c.389C>T ENSP00000464056.2:p.Pro130Leu
ENST00000475762.5:c.*1443C>T ENSP00000432421.1:n.*1443C>T
ENST00000482007.5:c.*168C>T ENSP00000433332.1:n.*168C>T
ENST00000487525.5:c.*313C>T ENSP00000431637.1:n.*313C>T
ENST00000578151.1:n.75C>T
ENST00000581221.5:n.255C>T
ENST00000583539.5:c.740C>T ENSP00000463121.1:p.Pro247Leu
ENST00000584617.5:c.462C>T
ENST00000584804.1:c.35C>T ENSP00000463658.1:p.Pro12Leu
ENST00000697678.1:n.642C>T
ENST00000697679.1:n.1814C>T
ENST00000697680.1:c.*1604C>T ENSP00000513392.1:n.*1604C>T
ENST00000697681.1:c.*1901C>T ENSP00000513393.1:n.*1901C>T
ENST00000697683.1:c.*1604C>T ENSP00000513395.1:n.*1604C>T
ENST00000697684.1:n.800C>T
ENST00000697685.1:c.*1437C>T ENSP00000513396.1:n.*1437C>T
ENST00000697686.1:c.389C>T ENSP00000513397.1:p.Pro130Leu
ENST00000697687.1:n.619C>T
ENST00000697688.1:n.786C>T
ENST00000697689.1:c.*1276C>T ENSP00000513398.1:n.*1276C>T
ENST00000697690.1:c.740C>T ENSP00000513399.1:p.Pro247Leu
ENST00000697691.1:c.*712C>T ENSP00000513400.1:n.*712C>T
ENST00000697692.1:c.*752C>T ENSP00000513401.1:n.*752C>T
ENST00000697694.1:c.389C>T ENSP00000513402.1:p.Pro130Leu
ENST00000697695.1:n.1347C>T
XM_006722001.2:c.740C>T XP_006722064.1:p.Pro247Leu
XM_006722001.4:c.740C>T XP_006722064.1:p.Pro247Leu
XM_006722002.2:c.740C>T XP_006722065.1:p.Pro247Leu
XM_006722002.4:c.740C>T XP_006722065.1:p.Pro247Leu
XM_006722004.2:c.389C>T XP_006722067.1:p.Pro130Leu
XM_006722004.3:c.389C>T XP_006722067.1:p.Pro130Leu
XM_006722005.2:c.389C>T XP_006722068.1:p.Pro130Leu
XM_006722005.3:c.389C>T XP_006722068.1:p.Pro130Leu
XM_011525092.1:c.389C>T XP_011523394.1:p.Pro130Leu
XM_011525092.2:c.389C>T XP_011523394.1:p.Pro130Leu
XM_011525093.1:c.389C>T XP_011523395.1:p.Pro130Leu
XM_011525093.2:c.389C>T XP_011523395.1:p.Pro130Leu
XM_011525094.1:c.389C>T XP_011523396.1:p.Pro130Leu
XM_011525094.2:c.389C>T XP_011523396.1:p.Pro130Leu
XM_017024914.1:c.389C>T XP_016880403.1:p.Pro130Leu
XM_017024915.1:c.389C>T XP_016880404.1:p.Pro130Leu
XM_017024916.1:c.389C>T XP_016880405.1:p.Pro130Leu
XM_017024917.1:c.389C>T XP_016880406.1:p.Pro130Leu
XM_017024918.2:c.389C>T XP_016880407.1:p.Pro130Leu
XM_017024919.1:c.389C>T XP_016880408.1:p.Pro130Leu
XR_934513.1:n.958C>T
XR_934513.3:n.1389C>T
XR_934514.1:n.958C>T
XR_934514.3:n.1389C>T