Linked Data
dbSNP Id:
rs1393691194
gnomAD v2:
13-41381415-T-C
gnomAD v3:
13-40807279-T-C
gnomAD v4:
13-40807279-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807279T>C , CM000675.2:g.40807279T>C | GRCh38 |
| NC_000013.10:g.41381415T>C , CM000675.1:g.41381415T>C | GRCh37 |
| NC_000013.9:g.40279415T>C | NCBI36 |
| NG_012248.1:g.22869T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.453-15T>C (SLC25A15) | ENSP00000516711.1:n.453-15T>C | |
| ENST00000338625.9:c.453-15T>C (SLC25A15) MANE Select | ENSP00000342267.4:n.453-15T>C | |
| ENST00000338625.8:c.453-15T>C (SLC25A15) | ENSP00000342267.4:n.453-15T>C | |
| ENST00000417731.5:c.315-15T>C (SLC25A15) | ENSP00000415826.1:n.315-15T>C | |
| ENST00000470509.1:c.*136-15T>C (SLC25A15) | ENSP00000431429.1:n.*136-15T>C | |
| ENST00000478827.1:n.940-15T>C (SLC25A15) | ||
| NM_014252.3:c.453-15T>C (SLC25A15) | NP_055067.1:n.453-15T>C | |
| NR_038258.1:n.623-6555A>G (TPTE2P5) | ||
| NR_038259.1:n.452-6555A>G (TPTE2P5) | ||
| NM_014252.4:c.453-15T>C (SLC25A15) MANE Select | NP_055067.1:n.453-15T>C |