Canonical Allele Identifier: CA400353515
Community Standard Title: NM_058216.3(RAD51C):c.744T>A (p.Phe248Leu)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58709897T>A , CM000679.2:g.58709897T>A GRCh38
NC_000017.10:g.56787258T>A , CM000679.1:g.56787258T>A GRCh37
NC_000017.9:g.54142257T>A NCBI36
NG_023199.1:g.22296T>A , LRG_314:g.22296T>A

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.744T>A MANE Select NP_478123.1:p.Phe248Leu
ENST00000337432.9:c.744T>A MANE Select ENSP00000336701.4:p.Phe248Leu
NM_058216.2:c.744T>A NP_478123.1:p.Phe248Leu
NR_103872.1:n.648T>A
NR_103872.2:n.619T>A
ENST00000337432.8:c.744T>A ENSP00000336701.4:p.Phe248Leu
ENST00000413590.5:c.382T>A
ENST00000461271.5:c.393T>A ENSP00000464056.1:p.Phe131Leu
ENST00000461271.6:c.393T>A ENSP00000464056.2:p.Phe131Leu
ENST00000475762.5:c.*1447T>A ENSP00000432421.1:n.*1447T>A
ENST00000482007.5:c.*172T>A ENSP00000433332.1:n.*172T>A
ENST00000487525.5:c.*317T>A ENSP00000431637.1:n.*317T>A
ENST00000578151.1:n.79T>A
ENST00000581221.5:n.259T>A
ENST00000583539.5:c.744T>A ENSP00000463121.1:p.Phe248Leu
ENST00000584617.5:c.466T>A
ENST00000584804.1:c.39T>A ENSP00000463658.1:p.Phe13Leu
ENST00000697678.1:n.646T>A
ENST00000697679.1:n.1818T>A
ENST00000697680.1:c.*1608T>A ENSP00000513392.1:n.*1608T>A
ENST00000697681.1:c.*1905T>A ENSP00000513393.1:n.*1905T>A
ENST00000697683.1:c.*1608T>A ENSP00000513395.1:n.*1608T>A
ENST00000697684.1:n.804T>A
ENST00000697685.1:c.*1441T>A ENSP00000513396.1:n.*1441T>A
ENST00000697686.1:c.393T>A ENSP00000513397.1:p.Phe131Leu
ENST00000697687.1:n.623T>A
ENST00000697688.1:n.790T>A
ENST00000697689.1:c.*1280T>A ENSP00000513398.1:n.*1280T>A
ENST00000697690.1:c.744T>A ENSP00000513399.1:p.Phe248Leu
ENST00000697691.1:c.*716T>A ENSP00000513400.1:n.*716T>A
ENST00000697692.1:c.*756T>A ENSP00000513401.1:n.*756T>A
ENST00000697694.1:c.393T>A ENSP00000513402.1:p.Phe131Leu
ENST00000697695.1:n.1351T>A
XM_006722001.2:c.744T>A XP_006722064.1:p.Phe248Leu
XM_006722001.4:c.744T>A XP_006722064.1:p.Phe248Leu
XM_006722002.2:c.744T>A XP_006722065.1:p.Phe248Leu
XM_006722002.4:c.744T>A XP_006722065.1:p.Phe248Leu
XM_006722004.2:c.393T>A XP_006722067.1:p.Phe131Leu
XM_006722004.3:c.393T>A XP_006722067.1:p.Phe131Leu
XM_006722005.2:c.393T>A XP_006722068.1:p.Phe131Leu
XM_006722005.3:c.393T>A XP_006722068.1:p.Phe131Leu
XM_011525092.1:c.393T>A XP_011523394.1:p.Phe131Leu
XM_011525092.2:c.393T>A XP_011523394.1:p.Phe131Leu
XM_011525093.1:c.393T>A XP_011523395.1:p.Phe131Leu
XM_011525093.2:c.393T>A XP_011523395.1:p.Phe131Leu
XM_011525094.1:c.393T>A XP_011523396.1:p.Phe131Leu
XM_011525094.2:c.393T>A XP_011523396.1:p.Phe131Leu
XM_017024914.1:c.393T>A XP_016880403.1:p.Phe131Leu
XM_017024915.1:c.393T>A XP_016880404.1:p.Phe131Leu
XM_017024916.1:c.393T>A XP_016880405.1:p.Phe131Leu
XM_017024917.1:c.393T>A XP_016880406.1:p.Phe131Leu
XM_017024918.2:c.393T>A XP_016880407.1:p.Phe131Leu
XM_017024919.1:c.393T>A XP_016880408.1:p.Phe131Leu
XR_934513.1:n.962T>A
XR_934513.3:n.1393T>A
XR_934514.1:n.962T>A
XR_934514.3:n.1393T>A