Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40809585G>A , CM000675.2:g.40809585G>A | GRCh38 |
| NC_000013.10:g.41383721G>A , CM000675.1:g.41383721G>A | GRCh37 |
| NC_000013.9:g.40281721G>A | NCBI36 |
| NG_012248.1:g.25175G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014252.4:c.824G>A (SLC25A15) MANE Select | NP_055067.1:p.Arg275Gln |
| ENST00000338625.9:c.824G>A (SLC25A15) MANE Select | ENSP00000342267.4:p.Arg275Gln |
| NM_014252.3:c.824G>A (SLC25A15) | NP_055067.1:p.Arg275Gln |
| NR_038258.1:n.623-8861C>T (TPTE2P5) | |
| NR_038259.1:n.452-8861C>T (TPTE2P5) | |
| ENST00000338625.8:c.824G>A (SLC25A15) | ENSP00000342267.4:p.Arg275Gln |
| ENST00000707033.1:c.824G>A (SLC25A15) | ENSP00000516711.1:p.Arg275Gln |