gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99809625 (NFE)
Genomes Max Group AF
0.99340587 (NFE)
Exomes Max Group AF
0.99803712 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44682438C>T , CM000666.2:g.44682438C>T | GRCh38 |
| NC_000004.11:g.44684455C>T , CM000666.1:g.44684455C>T | GRCh37 |
| NC_000004.10:g.44379212C>T | NCBI36 |
| NG_051569.1:g.9044C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.585+27C>T (GUF1) MANE Select | ENSP00000281543.5:n.585+27C>T | |
| ENST00000281543.5:c.585+27C>T (GUF1) | ENSP00000281543.5:n.585+27C>T | |
| ENST00000506793.5:n.467+27C>T (GUF1) | ||
| ENST00000513775.1:c.*176+27C>T (GUF1) | ENSP00000422681.1:n.*176+27C>T | |
| ENST00000608855.1:c.332G>A (GNPDA2) | ENSP00000477137.1:n.332G>A | |
| ENST00000609092.5:c.308-54G>A (GNPDA2) | ||
| NM_021927.2:c.585+27C>T (GUF1) | NP_068746.2:n.585+27C>T | |
| XM_005248122.2:c.-388+27C>T (GUF1) | XP_005248179.1:n.-388+27C>T | |
| XM_011513625.1:c.*140G>A (GNPDA2) | XP_011511927.1:n.*140G>A | |
| XM_011513626.1:c.*140G>A (GNPDA2) | XP_011511928.1:n.*140G>A | |
| XM_011513732.1:c.585+27C>T (GUF1) | XP_011512034.1:n.585+27C>T | |
| XM_011513733.1:c.435+27C>T (GUF1) | XP_011512035.1:n.435+27C>T | |
| XM_011513734.1:c.585+27C>T (GUF1) | XP_011512036.1:n.585+27C>T | |
| NM_001345867.1:c.-384+27C>T (GUF1) | NP_001332796.1:n.-384+27C>T | |
| NM_001345868.1:c.585+27C>T (GUF1) | NP_001332797.1:n.585+27C>T | |
| NM_001345869.1:c.-388+27C>T (GUF1) | NP_001332798.1:n.-388+27C>T | |
| XM_024454178.1:c.435+27C>T (GUF1) | XP_024309946.1:n.435+27C>T | |
| NM_021927.3:c.585+27C>T (GUF1) MANE Select | NP_068746.2:n.585+27C>T | |
| NM_001345867.2:c.-384+27C>T (GUF1) | NP_001332796.1:n.-384+27C>T | |
| NM_001345868.2:c.585+27C>T (GUF1) | NP_001332797.1:n.585+27C>T | |
| NM_001345869.2:c.-388+27C>T (GUF1) | NP_001332798.1:n.-388+27C>T |