Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40808593G>T , CM000675.2:g.40808593G>T | GRCh38 |
| NC_000013.10:g.41382729G>T , CM000675.1:g.41382729G>T | GRCh37 |
| NC_000013.9:g.40280729G>T | NCBI36 |
| NG_012248.1:g.24183G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014252.4:c.778G>T (SLC25A15) MANE Select | NP_055067.1:p.Glu260Ter |
| ENST00000338625.9:c.778G>T (SLC25A15) MANE Select | ENSP00000342267.4:p.Glu260Ter |
| NM_014252.3:c.778G>T (SLC25A15) | NP_055067.1:p.Glu260Ter |
| NR_038258.1:n.623-7869C>A (TPTE2P5) | |
| NR_038259.1:n.452-7869C>A (TPTE2P5) | |
| ENST00000338625.8:c.778G>T (SLC25A15) | ENSP00000342267.4:p.Glu260Ter |
| ENST00000707033.1:c.778G>T (SLC25A15) | ENSP00000516711.1:p.Glu260Ter |