Linked Data
dbSNP Id:
rs782430541
ExAC:
11:118895949 G / C
gnomAD v2:
11-118895949-G-C
gnomAD v4:
11-119025239-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025239G>C , CM000673.2:g.119025239G>C | GRCh38 |
| NC_000011.9:g.118895949G>C , CM000673.1:g.118895949G>C | GRCh37 |
| NC_000011.8:g.118401159G>C | NCBI36 |
| NG_013331.1:g.10667C>G , LRG_187:g.10667C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1285C>G (SLC37A4) | ||
| ENST00000697845.1:n.2274C>G (SLC37A4) | ||
| ENST00000697846.1:n.1647C>G (SLC37A4) | ||
| ENST00000697847.1:n.1358C>G (SLC37A4) | ||
| ENST00000697849.1:n.3751C>G (SLC37A4) | ||
| ENST00000697850.1:n.1942C>G (SLC37A4) | ||
| ENST00000697851.1:n.2913C>G (SLC37A4) | ||
| ENST00000638186.1:n.1379C>G (SLC37A4) | ||
| ENST00000638360.1:n.1211C>G (SLC37A4) | ||
| ENST00000638925.1:n.1344C>G (SLC37A4) | ||
| ENST00000650539.1:n.1547C>G (SLC37A4) | ||
| ENST00000330775.9:c.1075C>G (SLC37A4) | ENSP00000476242.2:p.Pro359Ala | |
| ENST00000357590.9:c.1141C>G (SLC37A4) | ENSP00000476176.2:p.Pro381Ala | |
| ENST00000524428.5:n.1311C>G (SLC37A4) | ||
| ENST00000525039.5:n.1565C>G (SLC37A4) | ||
| ENST00000525102.5:n.1833C>G (SLC37A4) | ||
| ENST00000525372.5:n.1173C>G (SLC37A4) | ||
| ENST00000526275.5:n.1857C>G (SLC37A4) | ||
| ENST00000527992.5:n.1303C>G (SLC37A4) | ||
| ENST00000529510.5:n.763C>G (SLC37A4) | ||
| ENST00000530407.5:n.1225C>G (SLC37A4) | ||
| ENST00000532085.1:n.5093C>G (SLC37A4) | ||
| ENST00000533058.5:c.*190G>C (TRAPPC4) | ENSP00000432920.1:n.*190G>C | |
| ENST00000538950.5:c.856C>G (SLC37A4) | ENSP00000475991.2:p.Pro286Ala | |
| ENST00000545985.5:c.1075C>G (SLC37A4) | ENSP00000475241.2:p.Pro359Ala | |
| NM_001164277.1:c.1075C>G , LRG_187t1:c.1075C>G (SLC37A4) | NP_001157749.1:p.Pro359Ala | |
| NM_001164278.1:c.1141C>G (SLC37A4) | NP_001157750.1:p.Pro381Ala | |
| NM_001164279.1:c.856C>G (SLC37A4) | NP_001157751.1:p.Pro286Ala | |
| NM_001164280.1:c.1075C>G (SLC37A4) | NP_001157752.1:p.Pro359Ala | |
| NM_001467.5:c.1075C>G (SLC37A4) | NP_001458.1:p.Pro359Ala | |
| NM_001164278.2:c.1141C>G (SLC37A4) | NP_001157750.1:p.Pro381Ala | |
| NM_001164279.2:c.856C>G (SLC37A4) | NP_001157751.1:p.Pro286Ala | |
| NM_001164280.2:c.1075C>G (SLC37A4) | NP_001157752.1:p.Pro359Ala | |
| NM_001467.6:c.1075C>G (SLC37A4) | NP_001458.1:p.Pro359Ala | |
| NM_001164277.2:c.1075C>G (SLC37A4) MANE Select | NP_001157749.1:p.Pro359Ala |