Linked Data
dbSNP Id:
rs782419356
ExAC:
11:118895771 G / A
gnomAD v2:
11-118895771-G-A
gnomAD v3:
11-119025061-G-A
gnomAD v4:
11-119025061-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025061G>A , CM000673.2:g.119025061G>A | GRCh38 |
| NC_000011.9:g.118895771G>A , CM000673.1:g.118895771G>A | GRCh37 |
| NC_000011.8:g.118400981G>A | NCBI36 |
| NG_013331.1:g.10845C>T , LRG_187:g.10845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1349C>T (SLC37A4) | ||
| ENST00000697845.1:n.2338C>T (SLC37A4) | ||
| ENST00000697846.1:n.1711C>T (SLC37A4) | ||
| ENST00000697847.1:n.1422C>T (SLC37A4) | ||
| ENST00000697849.1:n.3815C>T (SLC37A4) | ||
| ENST00000697850.1:n.2006C>T (SLC37A4) | ||
| ENST00000697851.1:n.2977C>T (SLC37A4) | ||
| ENST00000638186.1:n.1443C>T (SLC37A4) | ||
| ENST00000638360.1:n.1275C>T (SLC37A4) | ||
| ENST00000638925.1:n.1408C>T (SLC37A4) | ||
| ENST00000650539.1:n.1611C>T (SLC37A4) | ||
| ENST00000330775.9:c.1139C>T (SLC37A4) | ENSP00000476242.2:p.Ala380Val | |
| ENST00000357590.9:c.1205C>T (SLC37A4) | ENSP00000476176.2:p.Ala402Val | |
| ENST00000524428.5:n.1375C>T (SLC37A4) | ||
| ENST00000525039.5:n.1629C>T (SLC37A4) | ||
| ENST00000525102.5:n.1897C>T (SLC37A4) | ||
| ENST00000525372.5:n.1237C>T (SLC37A4) | ||
| ENST00000526275.5:n.1921C>T (SLC37A4) | ||
| ENST00000527992.5:n.1367C>T (SLC37A4) | ||
| ENST00000530407.5:n.1289C>T (SLC37A4) | ||
| ENST00000532085.1:n.5157C>T (SLC37A4) | ||
| ENST00000533058.5:c.*12G>A (TRAPPC4) | ENSP00000432920.1:n.*12G>A | |
| ENST00000538950.5:c.920C>T (SLC37A4) | ENSP00000475991.2:p.Ala307Val | |
| ENST00000545985.5:c.1139C>T (SLC37A4) | ENSP00000475241.2:p.Ala380Val | |
| NM_001164277.1:c.1139C>T , LRG_187t1:c.1139C>T (SLC37A4) | NP_001157749.1:p.Ala380Val | |
| NM_001164278.1:c.1205C>T (SLC37A4) | NP_001157750.1:p.Ala402Val | |
| NM_001164279.1:c.920C>T (SLC37A4) | NP_001157751.1:p.Ala307Val | |
| NM_001164280.1:c.1139C>T (SLC37A4) | NP_001157752.1:p.Ala380Val | |
| NM_001467.5:c.1139C>T (SLC37A4) | NP_001458.1:p.Ala380Val | |
| NM_001164278.2:c.1205C>T (SLC37A4) | NP_001157750.1:p.Ala402Val | |
| NM_001164279.2:c.920C>T (SLC37A4) | NP_001157751.1:p.Ala307Val | |
| NM_001164280.2:c.1139C>T (SLC37A4) | NP_001157752.1:p.Ala380Val | |
| NM_001467.6:c.1139C>T (SLC37A4) | NP_001458.1:p.Ala380Val | |
| NM_001164277.2:c.1139C>T (SLC37A4) MANE Select | NP_001157749.1:p.Ala380Val |