Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40808575A>G , CM000675.2:g.40808575A>G | GRCh38 |
| NC_000013.10:g.41382711A>G , CM000675.1:g.41382711A>G | GRCh37 |
| NC_000013.9:g.40280711A>G | NCBI36 |
| NG_012248.1:g.24165A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014252.4:c.760A>G (SLC25A15) MANE Select | NP_055067.1:p.Ile254Val |
| ENST00000338625.9:c.760A>G (SLC25A15) MANE Select | ENSP00000342267.4:p.Ile254Val |
| NM_014252.3:c.760A>G (SLC25A15) | NP_055067.1:p.Ile254Val |
| NR_038258.1:n.623-7851T>C (TPTE2P5) | |
| NR_038259.1:n.452-7851T>C (TPTE2P5) | |
| ENST00000338625.8:c.760A>G (SLC25A15) | ENSP00000342267.4:p.Ile254Val |
| ENST00000707033.1:c.760A>G (SLC25A15) | ENSP00000516711.1:p.Ile254Val |