Canonical Allele Identifier: CA391757313
Community Standard Title: NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
Gene: RAD51 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40728770C>T , CM000677.2:g.40728770C>T GRCh38
NC_000015.9:g.41020968C>T , CM000677.1:g.41020968C>T GRCh37
NC_000015.8:g.38808260C>T NCBI36
NG_012120.1:g.38610C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002875.5:c.590C>T MANE Select NP_002866.2:p.Thr197Ile
ENST00000267868.8:c.590C>T MANE Select ENSP00000267868.3:p.Thr197Ile
NM_001164269.1:c.593C>T NP_001157741.1:p.Thr198Ile
NM_001164269.2:c.593C>T NP_001157741.1:p.Thr198Ile
NM_001164270.1:c.590C>T NP_001157742.1:p.Thr197Ile
NM_001164270.2:c.590C>T NP_001157742.1:p.Thr197Ile
NM_002875.4:c.590C>T NP_002866.2:p.Thr197Ile
NM_133487.3:c.593C>T NP_597994.3:p.Thr198Ile
NM_133487.4:c.593C>T NP_597994.3:p.Thr198Ile
ENST00000267868.7:c.590C>T ENSP00000267868.3:p.Thr197Ile
ENST00000382643.7:c.593C>T ENSP00000372088.3:p.Thr198Ile
ENST00000423169.6:c.590C>T ENSP00000406602.2:p.Thr197Ile
ENST00000525066.5:c.*39C>T ENSP00000431864.1:n.*39C>T
ENST00000531277.2:c.*169C>T ENSP00000436512.2:n.*169C>T
ENST00000532743.5:c.593C>T ENSP00000433924.1:p.Thr198Ile
ENST00000532743.6:c.590C>T ENSP00000433924.2:p.Thr197Ile
ENST00000557850.5:c.299C>T ENSP00000454176.1:p.Thr100Ile
ENST00000645673.2:c.593C>T ENSP00000493712.2:p.Thr198Ile
XM_006720626.2:c.590C>T XP_006720689.1:p.Thr197Ile
XM_006720626.3:c.590C>T XP_006720689.1:p.Thr197Ile
XM_011521857.1:c.590C>T XP_011520159.1:p.Thr197Ile
XM_011521857.2:c.590C>T XP_011520159.1:p.Thr197Ile
XM_011521858.1:c.590C>T XP_011520160.1:p.Thr197Ile
XM_011521858.2:c.590C>T XP_011520160.1:p.Thr197Ile
XM_011521859.1:c.590C>T XP_011520161.1:p.Thr197Ile
XM_011521859.2:c.590C>T XP_011520161.1:p.Thr197Ile
XM_011521860.1:c.590C>T XP_011520162.1:p.Thr197Ile
XM_011521860.2:c.590C>T XP_011520162.1:p.Thr197Ile
XM_011521861.1:c.590C>T XP_011520163.1:p.Thr197Ile
XM_011521861.2:c.590C>T XP_011520163.1:p.Thr197Ile
XM_011521862.1:c.218C>T XP_011520164.1:p.Thr73Ile
XM_011521862.3:c.218C>T XP_011520164.1:p.Thr73Ile