SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26466245C>T , CM000684.2:g.26466245C>T | GRCh38 |
| NC_000022.10:g.26862211C>T , CM000684.1:g.26862211C>T | GRCh37 |
| NC_000022.9:g.25192211C>T | NCBI36 |
| NG_009763.2:g.22619G>A , LRG_590:g.22619G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022081.6:c.687G>A MANE Select | NP_071364.4:p.Glu229= |
| ENST00000398145.7:c.687G>A MANE Select | ENSP00000381213.2:p.Glu229= |
| NM_001349896.1:c.687G>A | NP_001336825.1:p.Glu229= |
| NM_001349898.1:c.687G>A | NP_001336827.1:p.Glu229= |
| NM_001349898.2:c.687G>A | NP_001336827.1:p.Glu229= |
| NM_001349899.1:c.687G>A | NP_001336828.1:p.Glu229= |
| NM_001349899.2:c.687G>A | NP_001336828.1:p.Glu229= |
| NM_001349900.1:c.687G>A | NP_001336829.1:p.Glu229= |
| NM_001349900.2:c.687G>A | NP_001336829.1:p.Glu229= |
| NM_001349901.1:c.687G>A | NP_001336830.1:p.Glu229= |
| NM_001349902.1:c.687G>A | NP_001336831.1:p.Glu229= |
| NM_001349903.1:c.687G>A | NP_001336832.1:p.Glu229= |
| NM_001349903.2:c.687G>A | NP_001336832.1:p.Glu229= |
| NM_001349904.1:c.687G>A | NP_001336833.1:p.Glu229= |
| NM_001349904.2:c.687G>A | NP_001336833.1:p.Glu229= |
| NM_001349905.1:c.687G>A | NP_001336834.1:p.Glu229= |
| NM_022081.5:c.687G>A , LRG_590t1:c.687G>A | NP_071364.4:p.Glu229= |
| NM_152841.2:c.672G>A , LRG_590t2:c.672G>A | NP_690054.1:p.Glu224= |
| NR_073135.1:n.1373G>A | |
| NR_073136.1:n.1081G>A | |
| NR_073136.2:n.888G>A | |
| NR_146311.1:n.1464G>A | |
| NR_146311.2:n.1384G>A | |
| NR_146312.1:n.1289G>A | |
| NR_146313.1:n.1309G>A | |
| NR_146313.2:n.1229G>A | |
| NR_146314.1:n.1440G>A | |
| NR_146315.1:n.1380G>A | |
| NR_146315.2:n.1300G>A | |
| NR_146316.1:n.1355G>A | |
| NR_146316.2:n.1275G>A | |
| ENST00000336873.9:c.687G>A | ENSP00000338457.5:p.Glu229= |
| ENST00000398145.6:c.687G>A | ENSP00000381213.2:p.Glu229= |
| ENST00000402105.7:c.672G>A | ENSP00000384185.3:p.Glu224= |
| ENST00000422379.2:c.687G>A | ENSP00000415081.2:p.Glu229= |
| ENST00000422379.3:c.687G>A | ENSP00000415081.3:p.Glu229= |
| ENST00000429411.5:c.*205G>A | ENSP00000399705.1:n.*205G>A |
| ENST00000439453.5:c.*205G>A | ENSP00000406764.1:n.*205G>A |
| ENST00000459918.1:n.506G>A | |
| ENST00000464362.5:c.*344G>A | ENSP00000430291.1:n.*344G>A |
| ENST00000466781.5:n.3546G>A | |
| ENST00000473782.2:c.687G>A | ENSP00000514223.1:p.Glu229= |
| ENST00000483631.2:c.-109G>A | ENSP00000514228.1:n.-109G>A |
| ENST00000485842.5:n.404+2306G>A | |
| ENST00000491142.2:c.687G>A | ENSP00000514221.1:p.Glu229= |
| ENST00000496385.5:n.779G>A | |
| ENST00000699226.1:n.2939G>A | |
| ENST00000699227.1:c.*31G>A | ENSP00000514220.1:n.*31G>A |
| ENST00000699228.1:n.1237G>A | |
| ENST00000699229.1:n.201G>A | |
| ENST00000699230.1:n.736G>A | |
| ENST00000699231.1:n.3025G>A | |
| ENST00000699232.1:n.741G>A | |
| ENST00000699233.1:n.558G>A | |
| ENST00000699234.1:c.*31G>A | ENSP00000514222.1:n.*31G>A |
| ENST00000699235.1:c.-109G>A | ENSP00000514224.1:n.-109G>A |
| ENST00000699236.1:c.687G>A | ENSP00000514225.1:p.Glu229= |
| ENST00000699237.1:c.687G>A | ENSP00000514226.1:p.Glu229= |
| ENST00000699238.1:c.*230G>A | ENSP00000514227.1:n.*230G>A |
| ENST00000699239.1:n.3441G>A | |
| ENST00000699240.1:c.*344G>A | ENSP00000514229.1:n.*344G>A |
| ENST00000699241.1:c.*205G>A | ENSP00000514230.1:n.*205G>A |
| ENST00000699242.1:c.543G>A | ENSP00000514231.1:p.Glu181= |
| ENST00000699243.1:c.*31G>A | ENSP00000514232.1:n.*31G>A |
| ENST00000699244.1:c.687G>A | ENSP00000514233.1:p.Glu229= |
| ENST00000699246.1:c.*205G>A | ENSP00000514234.1:n.*205G>A |
| ENST00000699247.1:c.669+2306G>A | ENSP00000514235.1:n.669+2306G>A |
| ENST00000699248.1:n.2757G>A | |
| ENST00000699249.1:c.*31G>A | ENSP00000514236.1:n.*31G>A |
| ENST00000699250.1:c.687G>A | ENSP00000514237.1:p.Glu229= |
| ENST00000699251.1:c.687G>A | ENSP00000514238.1:p.Glu229= |
| ENST00000699252.1:n.1237G>A | |
| XM_006724353.2:c.687G>A | XP_006724416.1:p.Glu229= |
| XM_006724354.2:c.687G>A | XP_006724417.1:p.Glu229= |
| XM_006724360.2:c.-2G>A | XP_006724423.1:n.-2G>A |
| XM_006724360.3:c.-2G>A | XP_006724423.1:n.-2G>A |
| XM_011530485.1:c.765G>A | XP_011528787.1:p.Glu255= |
| XM_011530485.2:c.765G>A | XP_011528787.1:p.Glu255= |
| XM_011530486.1:c.765G>A | XP_011528788.1:p.Glu255= |
| XM_011530486.2:c.765G>A | XP_011528788.1:p.Glu255= |
| XM_011530487.1:c.765G>A | XP_011528789.1:p.Glu255= |
| XM_011530487.2:c.765G>A | XP_011528789.1:p.Glu255= |
| XM_011530488.1:c.765G>A | XP_011528790.1:p.Glu255= |
| XM_011530488.2:c.765G>A | XP_011528790.1:p.Glu255= |
| XM_011530489.1:c.765G>A | XP_011528791.1:p.Glu255= |
| XM_011530489.2:c.765G>A | XP_011528791.1:p.Glu255= |
| XM_011530490.1:c.765G>A | XP_011528792.1:p.Glu255= |
| XM_011530490.3:c.765G>A | XP_011528792.1:p.Glu255= |
| XM_011530491.1:c.765G>A | XP_011528793.1:p.Glu255= |
| XM_011530491.3:c.765G>A | XP_011528793.1:p.Glu255= |
| XM_011530492.1:c.765G>A | XP_011528794.1:p.Glu255= |
| XM_011530492.2:c.765G>A | XP_011528794.1:p.Glu255= |
| XM_011530493.1:c.765G>A | XP_011528795.1:p.Glu255= |
| XM_011530493.3:c.765G>A | XP_011528795.1:p.Glu255= |
| XM_011530494.1:c.-28G>A | XP_011528796.1:n.-28G>A |
| XM_011530494.2:c.-28G>A | XP_011528796.1:n.-28G>A |
| XM_011530495.1:c.-2G>A | XP_011528797.1:n.-2G>A |
| XM_011530495.2:c.-2G>A | XP_011528797.1:n.-2G>A |
| XM_011530496.1:c.-28G>A | XP_011528798.1:n.-28G>A |
| XM_011530496.2:c.-28G>A | XP_011528798.1:n.-28G>A |
| XM_017029045.2:c.765G>A | XP_016884534.1:p.Glu255= |
| XM_017029046.2:c.687G>A | XP_016884535.1:p.Glu229= |
| XM_017029047.2:c.765G>A | XP_016884536.1:p.Glu255= |
| XM_017029052.2:c.225G>A | XP_016884541.1:p.Glu75= |
| XM_017029053.1:c.89G>A | XP_016884542.1:p.Arg30Lys |
| XM_017029056.2:c.-109G>A | XP_016884545.1:n.-109G>A |
| XM_017029061.2:c.-109G>A | XP_016884550.1:n.-109G>A |
| XM_017029062.2:c.-109G>A | XP_016884551.1:n.-109G>A |
| XM_017029063.2:c.-109G>A | XP_016884552.1:n.-109G>A |
| XM_017029064.2:c.-109G>A | XP_016884553.1:n.-109G>A |
| XM_024452298.1:c.60G>A | XP_024308066.1:p.Glu20= |
| XM_024452299.1:c.-783G>A | XP_024308067.1:n.-783G>A |
| XM_024452300.1:c.-109G>A | XP_024308068.1:n.-109G>A |
| XR_001755361.2:n.1341G>A | |
| XR_001755364.1:n.1251G>A | |
| XR_001755366.2:n.1250G>A | |
| XR_002958721.1:n.1419G>A | |
| XR_937947.1:n.1424G>A | |
| XR_937947.2:n.1419G>A |