Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102230777G= , CM000672.2:g.102230777G= | GRCh38 |
| NC_000010.10:g.103990534G= , CM000672.1:g.103990534G= | GRCh37 |
| NC_000010.9:g.103980524G= | NCBI36 |
| NG_008147.1:g.15698C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005029.4:c.646C= (PITX3) MANE Select | NP_005020.1:p.Gln216= |
| ENST00000370002.8:c.646C= (PITX3) MANE Select | ENSP00000359019.3:p.Gln216= |
| NM_001391923.1:c.-150G= (GBF1) | NP_001378852.1:n.-150G= |
| NM_001391924.1:c.-288G= (GBF1) | NP_001378853.1:n.-288G= |
| NM_005029.3:c.646C= (PITX3) | NP_005020.1:p.Gln216= |
| ENST00000370002.7:c.646C= (PITX3) | ENSP00000359019.3:p.Gln216= |
| ENST00000539804.1:c.646C= (PITX3) | ENSP00000439383.1:p.Gln216= |
| XM_011539865.1:c.664C= (PITX3) | XP_011538167.1:p.Gln222= |