Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102232043C= , CM000672.2:g.102232043C= | GRCh38 |
| NC_000010.10:g.103991800C= , CM000672.1:g.103991800C= | GRCh37 |
| NC_000010.9:g.103981790C= | NCBI36 |
| NG_008147.1:g.14432G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005029.4:c.38G= (PITX3) MANE Select | NP_005020.1:p.Ser13= |
| ENST00000370002.8:c.38G= (PITX3) MANE Select | ENSP00000359019.3:p.Ser13= |
| NM_001391923.1:c.-11+1127C= (GBF1) | NP_001378852.1:n.-11+1127C= |
| NM_001391924.1:c.-149+1127C= (GBF1) | NP_001378853.1:n.-149+1127C= |
| NM_005029.3:c.38G= (PITX3) | NP_005020.1:p.Ser13= |
| ENST00000370002.7:c.38G= (PITX3) | ENSP00000359019.3:p.Ser13= |
| ENST00000539804.1:c.38G= (PITX3) | ENSP00000439383.1:p.Ser13= |
| XM_011539865.1:c.56G= (PITX3) | XP_011538167.1:p.Ser19= |