Canonical Allele Identifier: CA400365824
Community Standard Title: NM_058216.3(RAD51C):c.1030C>G (p.Gln344Glu)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58734121C>G , CM000679.2:g.58734121C>G GRCh38
NC_000017.10:g.56811482C>G , CM000679.1:g.56811482C>G GRCh37
NC_000017.9:g.54166481C>G NCBI36
NG_023199.1:g.46520C>G , LRG_314:g.46520C>G

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.1030C>G MANE Select NP_478123.1:p.Gln344Glu
ENST00000337432.9:c.1030C>G MANE Select ENSP00000336701.4:p.Gln344Glu
NM_058216.2:c.1030C>G NP_478123.1:p.Gln344Glu
NR_103872.1:n.934C>G
NR_103872.2:n.905C>G
ENST00000337432.8:c.1030C>G ENSP00000336701.4:p.Gln344Glu
ENST00000413590.5:c.671C>G
ENST00000461271.6:c.*1562C>G ENSP00000464056.2:n.*1562C>G
ENST00000461706.1:n.217C>G
ENST00000475762.5:c.*1666C>G ENSP00000432421.1:n.*1666C>G
ENST00000482007.5:c.*458C>G ENSP00000433332.1:n.*458C>G
ENST00000487525.5:c.*606C>G ENSP00000431637.1:n.*606C>G
ENST00000578151.1:n.243C>G
ENST00000581221.5:n.545C>G
ENST00000584804.1:c.264C>G ENSP00000463658.1:p.Leu88=
ENST00000697680.1:c.*1994C>G ENSP00000513392.1:n.*1994C>G
ENST00000697681.1:c.*2191C>G ENSP00000513393.1:n.*2191C>G
ENST00000697683.1:c.*1966C>G ENSP00000513395.1:n.*1966C>G
ENST00000697685.1:c.*1727C>G ENSP00000513396.1:n.*1727C>G
ENST00000697686.1:c.801C>G ENSP00000513397.1:p.Leu267=
ENST00000697689.1:c.*1444C>G ENSP00000513398.1:n.*1444C>G
ENST00000697690.1:c.908C>G ENSP00000513399.1:p.Ser303Ter
ENST00000697691.1:c.*1002C>G ENSP00000513400.1:n.*1002C>G
ENST00000697692.1:c.*1042C>G ENSP00000513401.1:n.*1042C>G
ENST00000697694.1:c.679C>G ENSP00000513402.1:p.Gln227Glu
ENST00000697695.1:n.1637C>G
XM_006722001.2:c.1033C>G XP_006722064.1:p.Gln345Glu
XM_006722001.4:c.1033C>G XP_006722064.1:p.Gln345Glu
XM_006722002.2:c.969C>G XP_006722065.1:p.Leu323=
XM_006722002.4:c.969C>G XP_006722065.1:p.Leu323=
XM_006722004.2:c.682C>G XP_006722067.1:p.Gln228Glu
XM_006722004.3:c.682C>G XP_006722067.1:p.Gln228Glu
XM_006722005.2:c.682C>G XP_006722068.1:p.Gln228Glu
XM_006722005.3:c.682C>G XP_006722068.1:p.Gln228Glu
XM_011525092.1:c.682C>G XP_011523394.1:p.Gln228Glu
XM_011525092.2:c.682C>G XP_011523394.1:p.Gln228Glu
XM_011525093.1:c.682C>G XP_011523395.1:p.Gln228Glu
XM_011525093.2:c.682C>G XP_011523395.1:p.Gln228Glu
XM_011525094.1:c.682C>G XP_011523396.1:p.Gln228Glu
XM_011525094.2:c.682C>G XP_011523396.1:p.Gln228Glu
XM_017024914.1:c.679C>G XP_016880403.1:p.Gln227Glu
XM_017024915.1:c.679C>G XP_016880404.1:p.Gln227Glu
XM_017024916.1:c.679C>G XP_016880405.1:p.Gln227Glu
XM_017024917.1:c.679C>G XP_016880406.1:p.Gln227Glu
XM_017024918.2:c.679C>G XP_016880407.1:p.Gln227Glu
XM_017024919.1:c.618C>G XP_016880408.1:p.Leu206=
XR_934513.1:n.1248C>G
XR_934513.3:n.1679C>G
XR_934514.1:n.1251C>G
XR_934514.3:n.1682C>G
XR_934886.1:n.149+3950G>C
XR_934886.2:n.149+3950G>C