Revel Score:
ENST00000338625 (MANE Select)
0.904
ENST00000443985
0.904
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40809585G>T , CM000675.2:g.40809585G>T | GRCh38 |
| NC_000013.10:g.41383721G>T , CM000675.1:g.41383721G>T | GRCh37 |
| NC_000013.9:g.40281721G>T | NCBI36 |
| NG_012248.1:g.25175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.824G>T (SLC25A15) | ENSP00000516711.1:p.Arg275Leu | |
| ENST00000338625.9:c.824G>T (SLC25A15) MANE Select | ENSP00000342267.4:p.Arg275Leu | |
| ENST00000338625.8:c.824G>T (SLC25A15) | ENSP00000342267.4:p.Arg275Leu | |
| NM_014252.3:c.824G>T (SLC25A15) | NP_055067.1:p.Arg275Leu | |
| NR_038258.1:n.623-8861C>A (TPTE2P5) | ||
| NR_038259.1:n.452-8861C>A (TPTE2P5) | ||
| NM_014252.4:c.824G>T (SLC25A15) MANE Select | NP_055067.1:p.Arg275Leu |