Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27920190T>C , CM000675.2:g.27920190T>C | GRCh38 |
| NC_000013.10:g.28494327T>C , CM000675.1:g.28494327T>C | GRCh37 |
| NC_000013.9:g.27392327T>C | NCBI36 |
| NG_008183.1:g.5160T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000209.4:c.52T>C (PDX1) MANE Select | NP_000200.1:p.Cys18Arg |
| ENST00000381033.5:c.52T>C (PDX1) MANE Select | ENSP00000370421.4:p.Cys18Arg |
| NM_000209.3:c.52T>C (PDX1) | NP_000200.1:p.Cys18Arg |
| NR_047484.1:n.241+974A>G (PLUT) | |
| ENST00000381033.4:c.52T>C (PDX1) | ENSP00000370421.4:p.Cys18Arg |
| XR_941578.1:n.197T>C (PDX1) | |
| XR_941578.2:n.209T>C (PDX1) | |
| XR_941579.1:n.197T>C (PDX1) | |
| XR_941580.1:n.197T>C (PDX1) | |
| XR_941580.2:n.209T>C (PDX1) |