Canonical Allele Identifier: CA400365100
Community Standard Title: NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58732527G>T , CM000679.2:g.58732527G>T GRCh38
NC_000017.10:g.56809888G>T , CM000679.1:g.56809888G>T GRCh37
NC_000017.9:g.54164887G>T NCBI36
NG_023199.1:g.44926G>T , LRG_314:g.44926G>T

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.1009G>T MANE Select NP_478123.1:p.Val337Leu
ENST00000337432.9:c.1009G>T MANE Select ENSP00000336701.4:p.Val337Leu
NM_058216.2:c.1009G>T NP_478123.1:p.Val337Leu
NR_103872.1:n.913G>T
NR_103872.2:n.884G>T
ENST00000337432.8:c.1009G>T ENSP00000336701.4:p.Val337Leu
ENST00000413590.5:c.650G>T
ENST00000461271.6:c.658G>T ENSP00000464056.2:p.Val220Leu
ENST00000461706.1:n.196G>T
ENST00000475762.5:c.*1645G>T ENSP00000432421.1:n.*1645G>T
ENST00000482007.5:c.*437G>T ENSP00000433332.1:n.*437G>T
ENST00000487525.5:c.*585G>T ENSP00000431637.1:n.*585G>T
ENST00000578151.1:n.240-1591G>T
ENST00000581221.5:n.524G>T
ENST00000583539.5:c.1009G>T ENSP00000463121.1:p.Val337Leu
ENST00000584804.1:c.243G>T ENSP00000463658.1:p.Gln81His
ENST00000697680.1:c.*1973G>T ENSP00000513392.1:n.*1973G>T
ENST00000697681.1:c.*2170G>T ENSP00000513393.1:n.*2170G>T
ENST00000697683.1:c.*1945G>T ENSP00000513395.1:n.*1945G>T
ENST00000697685.1:c.*1706G>T ENSP00000513396.1:n.*1706G>T
ENST00000697686.1:c.780G>T ENSP00000513397.1:p.Gln260His
ENST00000697689.1:c.*1441-1591G>T ENSP00000513398.1:n.*1441-1591G>T
ENST00000697690.1:c.905-1591G>T ENSP00000513399.1:n.905-1591G>T
ENST00000697691.1:c.*981G>T ENSP00000513400.1:n.*981G>T
ENST00000697692.1:c.*1021G>T ENSP00000513401.1:n.*1021G>T
ENST00000697694.1:c.658G>T ENSP00000513402.1:p.Val220Leu
ENST00000697695.1:n.1616G>T
XM_006722001.2:c.1012G>T XP_006722064.1:p.Val338Leu
XM_006722001.4:c.1012G>T XP_006722064.1:p.Val338Leu
XM_006722002.2:c.948G>T XP_006722065.1:p.Gln316His
XM_006722002.4:c.948G>T XP_006722065.1:p.Gln316His
XM_006722004.2:c.661G>T XP_006722067.1:p.Val221Leu
XM_006722004.3:c.661G>T XP_006722067.1:p.Val221Leu
XM_006722005.2:c.661G>T XP_006722068.1:p.Val221Leu
XM_006722005.3:c.661G>T XP_006722068.1:p.Val221Leu
XM_011525092.1:c.661G>T XP_011523394.1:p.Val221Leu
XM_011525092.2:c.661G>T XP_011523394.1:p.Val221Leu
XM_011525093.1:c.661G>T XP_011523395.1:p.Val221Leu
XM_011525093.2:c.661G>T XP_011523395.1:p.Val221Leu
XM_011525094.1:c.661G>T XP_011523396.1:p.Val221Leu
XM_011525094.2:c.661G>T XP_011523396.1:p.Val221Leu
XM_017024914.1:c.658G>T XP_016880403.1:p.Val220Leu
XM_017024915.1:c.658G>T XP_016880404.1:p.Val220Leu
XM_017024916.1:c.658G>T XP_016880405.1:p.Val220Leu
XM_017024917.1:c.658G>T XP_016880406.1:p.Val220Leu
XM_017024918.2:c.658G>T XP_016880407.1:p.Val220Leu
XM_017024919.1:c.597G>T XP_016880408.1:p.Gln199His
XR_934513.1:n.1227G>T
XR_934513.3:n.1658G>T
XR_934514.1:n.1230G>T
XR_934514.3:n.1661G>T
XR_934886.1:n.149+5544C>A
XR_934886.2:n.149+5544C>A