gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94493786C>G , CM000673.2:g.94493786C>G | GRCh38 |
| NC_000011.9:g.94226952C>G , CM000673.1:g.94226952C>G | GRCh37 |
| NC_000011.8:g.93866600C>G | NCBI36 |
| NG_007261.1:g.5089G>C , LRG_85:g.5089G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.-106+5G>C (MRE11) MANE Select | ENSP00000325863.4:n.-106+5G>C | |
| ENST00000323929.7:c.-106+5G>C (MRE11) | ENSP00000325863.3:n.-106+5G>C | |
| ENST00000323977.7:c.-208G>C (MRE11) | ENSP00000326094.3:n.-208G>C | |
| ENST00000393241.8:c.-171G>C (MRE11) | ENSP00000376933.4:n.-171G>C | |
| ENST00000407439.7:c.-237+5G>C (MRE11) | ENSP00000385614.3:n.-237+5G>C | |
| ENST00000536144.1:n.28G>C (MRE11) | ||
| ENST00000536754.5:c.-97+5G>C (MRE11) | ENSP00000439511.1:n.-97+5G>C | |
| ENST00000538923.1:c.-199G>C (MRE11) | ENSP00000442809.1:n.-199G>C | |
| ENST00000540013.5:c.-106+5G>C (MRE11) | ENSP00000440986.1:n.-106+5G>C | |
| ENST00000541157.5:n.59+5G>C (MRE11) | ||
| ENST00000544612.5:c.-340C>G (ANKRD49) | ENSP00000440396.1:n.-340C>G | |
| NM_005590.3:c.-208G>C (MRE11) | NP_005581.2:n.-208G>C | |
| NM_005591.3:c.-106+5G>C , LRG_85t1:c.-106+5G>C (MRE11) | NP_005582.1:n.-106+5G>C | |
| XM_006718842.2:c.-208G>C (MRE11) | XP_006718905.1:n.-208G>C | |
| XM_011542837.1:c.-105-880G>C (MRE11) | XP_011541139.1:n.-105-880G>C | |
| XR_947828.1:n.89G>C (MRE11) | ||
| NM_001330347.1:c.-106+5G>C (MRE11) | NP_001317276.1:n.-106+5G>C | |
| XM_006718842.3:c.-208G>C (MRE11) | XP_006718905.1:n.-208G>C | |
| XM_011542837.2:c.-105-880G>C (MRE11) | XP_011541139.1:n.-105-880G>C | |
| XM_017017772.1:c.-208G>C (MRE11) | XP_016873261.1:n.-208G>C | |
| XR_947828.2:n.89G>C (MRE11) | ||
| NM_001330347.2:c.-106+5G>C (MRE11) | NP_001317276.1:n.-106+5G>C | |
| NM_005590.4:c.-208G>C (MRE11) | NP_005581.2:n.-208G>C | |
| NM_005591.4:c.-106+5G>C (MRE11) MANE Select | NP_005582.1:n.-106+5G>C |