COSMIC:
COSM5654057 (not active)
COSM5654058 (not active)
Revel Score:
ENST00000377905 (MANE Select)
0.082
ENST00000439485
0.082
ENST00000397076
0.082
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44670696 (SAS)
Genomes Max Group AF
0.43369848 (SAS)
Exomes Max Group AF
0.44665518 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25776721G>A , CM000668.2:g.25776721G>A | GRCh38 |
| NC_000006.11:g.25776949G>A , CM000668.1:g.25776949G>A | GRCh37 |
| NC_000006.10:g.25884928G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377905.9:c.1114G>A (SLC17A4) MANE Select | ENSP00000367137.4:p.Ala372Thr | |
| ENST00000377905.8:c.1114G>A (SLC17A4) | ENSP00000367137.4:p.Ala372Thr | |
| ENST00000397076.2:c.424G>A (SLC17A4) | ENSP00000380266.2:p.Ala142Thr | |
| ENST00000439485.6:c.952G>A (SLC17A4) | ENSP00000391345.3:p.Ala318Thr | |
| NM_001286121.1:c.952G>A (SLC17A4) | NP_001273050.1:p.Ala318Thr | |
| NM_005495.2:c.1114G>A (SLC17A4) | NP_005486.1:p.Ala372Thr | |
| XM_011514206.1:c.1114G>A (SLC17A4) | XP_011512508.1:p.Ala372Thr | |
| XM_011514207.1:c.1114G>A (SLC17A4) | XP_011512509.1:p.Ala372Thr | |
| XM_011514208.1:c.1114G>A (SLC17A4) | XP_011512510.1:p.Ala372Thr | |
| XM_011514209.1:c.1114G>A (SLC17A4) | XP_011512511.1:p.Ala372Thr | |
| XM_011514210.1:c.1114G>A (SLC17A4) | XP_011512512.1:p.Ala372Thr | |
| XM_011514211.1:c.952G>A (SLC17A4) | XP_011512513.1:p.Ala318Thr | |
| XM_011514212.1:c.952G>A (SLC17A4) | XP_011512514.1:p.Ala318Thr | |
| XM_011514213.1:c.880G>A (SLC17A4) | XP_011512515.1:p.Ala294Thr | |
| XM_011514214.1:c.988-1205G>A (SLC17A4) | XP_011512516.1:n.988-1205G>A | |
| XM_011514216.1:c.601G>A (SLC17A4) | XP_011512518.1:p.Ala201Thr | |
| XM_011514217.1:c.586G>A (SLC17A4) | XP_011512519.1:p.Ala196Thr | |
| XM_011514218.1:c.490G>A (SLC17A4) | XP_011512520.1:p.Ala164Thr | |
| XM_011514219.1:c.424G>A (SLC17A4) | XP_011512521.1:p.Ala142Thr | |
| XR_925996.1:n.1210G>A (SLC17A4) | ||
| XR_925997.1:n.1210G>A (SLC17A4) | ||
| XM_011514213.2:c.880G>A (SLC17A4) | XP_011512515.1:p.Ala294Thr | |
| XM_011514214.2:c.988-1205G>A (SLC17A4) | XP_011512516.1:n.988-1205G>A | |
| XM_011514217.2:c.586G>A (SLC17A4) | XP_011512519.1:p.Ala196Thr | |
| XM_011514218.2:c.490G>A (SLC17A4) | XP_011512520.1:p.Ala164Thr | |
| XM_011514219.2:c.424G>A (SLC17A4) | XP_011512521.1:p.Ala142Thr | |
| XM_017010150.1:c.1114G>A (SLC17A4) | XP_016865639.1:p.Ala372Thr | |
| XM_017010151.1:c.707-1205G>A (SLC17A4) | XP_016865640.1:n.707-1205G>A | |
| XM_017011201.2:c.*2+22062C>T (SLC17A1) | XP_016866690.1:n.*2+22062C>T | |
| XM_024446294.1:c.1114G>A (SLC17A4) | XP_024302062.1:p.Ala372Thr | |
| XM_024446295.1:c.1114G>A (SLC17A4) | XP_024302063.1:p.Ala372Thr | |
| XM_024446296.1:c.1114G>A (SLC17A4) | XP_024302064.1:p.Ala372Thr | |
| XM_024446297.1:c.952G>A (SLC17A4) | XP_024302065.1:p.Ala318Thr | |
| NM_005495.3:c.1114G>A (SLC17A4) MANE Select | NP_005486.1:p.Ala372Thr |