Linked Data
ClinVar Variation Id:
2182882
ClinVar RCV Id:
RCV002592244
dbSNP Id:
rs371093860
gnomAD v2:
11-118895999-G-A
gnomAD v3:
11-119025289-G-A
gnomAD v4:
11-119025289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025289G>A , CM000673.2:g.119025289G>A | GRCh38 |
| NC_000011.9:g.118895999G>A , CM000673.1:g.118895999G>A | GRCh37 |
| NC_000011.8:g.118401209G>A | NCBI36 |
| NG_013331.1:g.10617C>T , LRG_187:g.10617C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1235C>T (SLC37A4) | ||
| ENST00000697845.1:n.2224C>T (SLC37A4) | ||
| ENST00000697846.1:n.1597C>T (SLC37A4) | ||
| ENST00000697847.1:n.1308C>T (SLC37A4) | ||
| ENST00000697849.1:n.3701C>T (SLC37A4) | ||
| ENST00000697850.1:n.1892C>T (SLC37A4) | ||
| ENST00000697851.1:n.2863C>T (SLC37A4) | ||
| ENST00000638186.1:n.1329C>T (SLC37A4) | ||
| ENST00000638360.1:n.1161C>T (SLC37A4) | ||
| ENST00000638925.1:n.1294C>T (SLC37A4) | ||
| ENST00000650539.1:n.1497C>T (SLC37A4) | ||
| ENST00000330775.9:c.1025C>T (SLC37A4) | ENSP00000476242.2:p.Ser342Leu | |
| ENST00000357590.9:c.1091C>T (SLC37A4) | ENSP00000476176.2:p.Ser364Leu | |
| ENST00000524428.5:n.1261C>T (SLC37A4) | ||
| ENST00000525039.5:n.1515C>T (SLC37A4) | ||
| ENST00000525102.5:n.1783C>T (SLC37A4) | ||
| ENST00000525372.5:n.1123C>T (SLC37A4) | ||
| ENST00000526275.5:n.1807C>T (SLC37A4) | ||
| ENST00000527992.5:n.1253C>T (SLC37A4) | ||
| ENST00000529510.5:n.713C>T (SLC37A4) | ||
| ENST00000530407.5:n.1175C>T (SLC37A4) | ||
| ENST00000532085.1:n.5043C>T (SLC37A4) | ||
| ENST00000533058.5:c.*240G>A (TRAPPC4) | ENSP00000432920.1:n.*240G>A | |
| ENST00000538950.5:c.806C>T (SLC37A4) | ENSP00000475991.2:p.Ser269Leu | |
| ENST00000545985.5:c.1025C>T (SLC37A4) | ENSP00000475241.2:p.Ser342Leu | |
| NM_001164277.1:c.1025C>T , LRG_187t1:c.1025C>T (SLC37A4) | NP_001157749.1:p.Ser342Leu | |
| NM_001164278.1:c.1091C>T (SLC37A4) | NP_001157750.1:p.Ser364Leu | |
| NM_001164279.1:c.806C>T (SLC37A4) | NP_001157751.1:p.Ser269Leu | |
| NM_001164280.1:c.1025C>T (SLC37A4) | NP_001157752.1:p.Ser342Leu | |
| NM_001467.5:c.1025C>T (SLC37A4) | NP_001458.1:p.Ser342Leu | |
| NM_001164278.2:c.1091C>T (SLC37A4) | NP_001157750.1:p.Ser364Leu | |
| NM_001164279.2:c.806C>T (SLC37A4) | NP_001157751.1:p.Ser269Leu | |
| NM_001164280.2:c.1025C>T (SLC37A4) | NP_001157752.1:p.Ser342Leu | |
| NM_001467.6:c.1025C>T (SLC37A4) | NP_001458.1:p.Ser342Leu | |
| NM_001164277.2:c.1025C>T (SLC37A4) MANE Select | NP_001157749.1:p.Ser342Leu |