Revel Score:
ENST00000338625 (MANE Select)
0.939
ENST00000379523
0.939
ENST00000417731
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40799213T>A , CM000675.2:g.40799213T>A | GRCh38 |
| NC_000013.10:g.41373349T>A , CM000675.1:g.41373349T>A | GRCh37 |
| NC_000013.9:g.40271349T>A | NCBI36 |
| NG_012248.1:g.14803T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.212T>A (SLC25A15) | ENSP00000516711.1:p.Leu71Gln | |
| ENST00000338625.9:c.212T>A (SLC25A15) MANE Select | ENSP00000342267.4:p.Leu71Gln | |
| ENST00000338625.8:c.212T>A (SLC25A15) | ENSP00000342267.4:p.Leu71Gln | |
| ENST00000417731.5:c.212T>A (SLC25A15) | ENSP00000415826.1:p.Leu71Gln | |
| ENST00000470509.1:c.171+41T>A (SLC25A15) | ENSP00000431429.1:n.171+41T>A | |
| ENST00000478827.1:n.533T>A (SLC25A15) | ||
| NM_014252.3:c.212T>A (SLC25A15) | NP_055067.1:p.Leu71Gln | |
| NR_038258.1:n.2134A>T (TPTE2P5) | ||
| NR_038259.1:n.1963A>T (TPTE2P5) | ||
| NM_014252.4:c.212T>A (SLC25A15) MANE Select | NP_055067.1:p.Leu71Gln |