Linked Data
ClinVar Variation Id:
312177
ClinVar RCV Id:
RCV000367821
dbSNP Id:
rs369201060
ExAC:
13:41373415 G / A
gnomAD v2:
13-41373415-G-A
gnomAD v3:
13-40799279-G-A
gnomAD v4:
13-40799279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40799279G>A , CM000675.2:g.40799279G>A | GRCh38 |
| NC_000013.10:g.41373415G>A , CM000675.1:g.41373415G>A | GRCh37 |
| NC_000013.9:g.40271415G>A | NCBI36 |
| NG_012248.1:g.14869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.278G>A (SLC25A15) | ENSP00000516711.1:p.Arg93Gln | |
| ENST00000338625.9:c.278G>A (SLC25A15) MANE Select | ENSP00000342267.4:p.Arg93Gln | |
| ENST00000338625.8:c.278G>A (SLC25A15) | ENSP00000342267.4:p.Arg93Gln | |
| ENST00000417731.5:c.278G>A (SLC25A15) | ENSP00000415826.1:p.Arg93Gln | |
| ENST00000470509.1:c.171+107G>A (SLC25A15) | ENSP00000431429.1:n.171+107G>A | |
| ENST00000478827.1:n.599G>A (SLC25A15) | ||
| NM_014252.3:c.278G>A (SLC25A15) | NP_055067.1:p.Arg93Gln | |
| NR_038258.1:n.2068C>T (TPTE2P5) | ||
| NR_038259.1:n.1897C>T (TPTE2P5) | ||
| NM_014252.4:c.278G>A (SLC25A15) MANE Select | NP_055067.1:p.Arg93Gln |