Linked Data
dbSNP Id:
rs1047942272
gnomAD v2:
13-41373115-G-A
gnomAD v3:
13-40798979-G-A
gnomAD v4:
13-40798979-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40798979G>A , CM000675.2:g.40798979G>A | GRCh38 |
| NC_000013.10:g.41373115G>A , CM000675.1:g.41373115G>A | GRCh37 |
| NC_000013.9:g.40271115G>A | NCBI36 |
| NG_012248.1:g.14569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.56-78G>A (SLC25A15) | ENSP00000516711.1:n.56-78G>A | |
| ENST00000338625.9:c.56-78G>A (SLC25A15) MANE Select | ENSP00000342267.4:n.56-78G>A | |
| ENST00000338625.8:c.56-78G>A (SLC25A15) | ENSP00000342267.4:n.56-78G>A | |
| ENST00000417731.5:c.56-78G>A (SLC25A15) | ENSP00000415826.1:n.56-78G>A | |
| ENST00000470509.1:c.56-78G>A (SLC25A15) | ENSP00000431429.1:n.56-78G>A | |
| ENST00000478827.1:n.377-78G>A (SLC25A15) | ||
| NM_014252.3:c.56-78G>A (SLC25A15) | NP_055067.1:n.56-78G>A | |
| NR_038258.1:n.2368C>T (TPTE2P5) | ||
| NR_038259.1:n.2197C>T (TPTE2P5) | ||
| NM_014252.4:c.56-78G>A (SLC25A15) MANE Select | NP_055067.1:n.56-78G>A |