Linked Data
ClinVar Variation Id:
5993
dbSNP Id:
rs104894424
ExAC:
13:41381515 G / A
gnomAD v2:
13-41381515-G-A
gnomAD v3:
13-40807379-G-A
gnomAD v4:
13-40807379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807379G>A , CM000675.2:g.40807379G>A | GRCh38 |
| NC_000013.10:g.41381515G>A , CM000675.1:g.41381515G>A | GRCh37 |
| NC_000013.9:g.40279515G>A | NCBI36 |
| NG_012248.1:g.22969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707033.1:c.538G>A (SLC25A15) | ENSP00000516711.1:p.Glu180Lys | |
| ENST00000338625.9:c.538G>A (SLC25A15) MANE Select | ENSP00000342267.4:p.Glu180Lys | |
| ENST00000338625.8:c.538G>A (SLC25A15) | ENSP00000342267.4:p.Glu180Lys | |
| ENST00000470509.1:c.*221G>A (SLC25A15) | ENSP00000431429.1:n.*221G>A | |
| ENST00000478827.1:n.1025G>A (SLC25A15) | ||
| NM_014252.3:c.538G>A (SLC25A15) | NP_055067.1:p.Glu180Lys | |
| NR_038258.1:n.623-6655C>T (TPTE2P5) | ||
| NR_038259.1:n.452-6655C>T (TPTE2P5) | ||
| NM_014252.4:c.538G>A (SLC25A15) MANE Select | NP_055067.1:p.Glu180Lys |