Revel Score:
ENST00000293800
0.664
ENST00000433363 (MANE Select)
0.664
ENST00000381074
0.664
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000693 (NFE)
Exomes Max Group AF
0.00000656 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6690936G>A , CM000679.2:g.6690936G>A | GRCh38 |
| NC_000017.10:g.6594255G>A , CM000679.1:g.6594255G>A | GRCh37 |
| NC_000017.9:g.6534979G>A | NCBI36 |
| NG_034220.1:g.27486C>T , LRG_1020:g.27486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1280C>T (SLC13A5) MANE Select | ENSP00000406220.2:p.Ser427Leu | |
| ENST00000635042.1:n.725-1929G>A (C17orf100) | ||
| ENST00000293800.10:c.1229C>T (SLC13A5) | ENSP00000293800.6:p.Ser410Leu | |
| ENST00000381074.8:c.1151C>T (SLC13A5) | ENSP00000370464.4:p.Ser384Leu | |
| ENST00000433363.6:c.1280C>T (SLC13A5) | ENSP00000406220.2:p.Ser427Leu | |
| ENST00000572727.1:n.389C>T (SLC13A5) | ||
| ENST00000573648.5:c.1280C>T (SLC13A5) | ENSP00000459372.1:p.Ser427Leu | |
| ENST00000634558.1:n.662+909G>A (ALOX15P1) | ||
| ENST00000634823.1:n.265-1929G>A (ALOX15P1) | ||
| NM_001143838.2:c.1280C>T (SLC13A5) | NP_001137310.1:p.Ser427Leu | |
| NM_001284509.1:c.1229C>T (SLC13A5) | NP_001271438.1:p.Ser410Leu | |
| NM_001284510.1:c.1151C>T (SLC13A5) | NP_001271439.1:p.Ser384Leu | |
| NM_177550.4:c.1280C>T , LRG_1020t1:c.1280C>T (SLC13A5) | NP_808218.1:p.Ser427Leu | |
| XM_006721504.2:c.1169C>T (SLC13A5) | XP_006721567.1:p.Ser390Leu | |
| XM_011523795.1:c.1280C>T (SLC13A5) | XP_011522097.1:p.Ser427Leu | |
| XM_011523795.3:c.1280C>T (SLC13A5) | XP_011522097.1:p.Ser427Leu | |
| NM_001143838.3:c.1280C>T (SLC13A5) | NP_001137310.1:p.Ser427Leu | |
| NM_001284509.2:c.1229C>T (SLC13A5) | NP_001271438.1:p.Ser410Leu | |
| NM_001284510.2:c.1151C>T (SLC13A5) | NP_001271439.1:p.Ser384Leu | |
| NM_177550.5:c.1280C>T (SLC13A5) MANE Select | NP_808218.1:p.Ser427Leu |