Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916428G>C , CM000673.2:g.34916428G>C | GRCh38 |
| NC_000011.9:g.34937975G>C , CM000673.1:g.34937975G>C | GRCh37 |
| NC_000011.8:g.34894551G>C | NCBI36 |
| NG_013368.1:g.5299G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.-79G>C (PDHX) | ENSP00000389404.3:n.-79G>C | |
| ENST00000395787.3:c.-144C>G (APIP) | ENSP00000379133.3:n.-144C>G | |
| ENST00000448838.7:c.57G>C (PDHX) | ENSP00000389404.2:p.Pro19= | |
| ENST00000533550.5:c.-21+490G>C (PDHX) | ENSP00000431281.1:n.-21+490G>C | |
| NM_001135024.1:c.57G>C (PDHX) | NP_001128496.1:p.Pro19= | |
| NM_001166158.1:c.-228G>C (PDHX) | NP_001159630.1:n.-228G>C | |
| NM_003477.2:c.-228G>C (PDHX) | NP_003468.2:n.-228G>C | |
| XM_011520390.1:c.-21+490G>C (PDHX) | XP_011518692.1:n.-21+490G>C |