Linked Data
dbSNP Id:
rs782032758
ExAC:
11:118895966 G / C
gnomAD v2:
11-118895966-G-C
gnomAD v4:
11-119025256-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025256G>C , CM000673.2:g.119025256G>C | GRCh38 |
| NC_000011.9:g.118895966G>C , CM000673.1:g.118895966G>C | GRCh37 |
| NC_000011.8:g.118401176G>C | NCBI36 |
| NG_013331.1:g.10650C>G , LRG_187:g.10650C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1268C>G (SLC37A4) | ||
| ENST00000697845.1:n.2257C>G (SLC37A4) | ||
| ENST00000697846.1:n.1630C>G (SLC37A4) | ||
| ENST00000697847.1:n.1341C>G (SLC37A4) | ||
| ENST00000697849.1:n.3734C>G (SLC37A4) | ||
| ENST00000697850.1:n.1925C>G (SLC37A4) | ||
| ENST00000697851.1:n.2896C>G (SLC37A4) | ||
| ENST00000638186.1:n.1362C>G (SLC37A4) | ||
| ENST00000638360.1:n.1194C>G (SLC37A4) | ||
| ENST00000638925.1:n.1327C>G (SLC37A4) | ||
| ENST00000650539.1:n.1530C>G (SLC37A4) | ||
| ENST00000330775.9:c.1058C>G (SLC37A4) | ENSP00000476242.2:p.Ala353Gly | |
| ENST00000357590.9:c.1124C>G (SLC37A4) | ENSP00000476176.2:p.Ala375Gly | |
| ENST00000524428.5:n.1294C>G (SLC37A4) | ||
| ENST00000525039.5:n.1548C>G (SLC37A4) | ||
| ENST00000525102.5:n.1816C>G (SLC37A4) | ||
| ENST00000525372.5:n.1156C>G (SLC37A4) | ||
| ENST00000526275.5:n.1840C>G (SLC37A4) | ||
| ENST00000527992.5:n.1286C>G (SLC37A4) | ||
| ENST00000529510.5:n.746C>G (SLC37A4) | ||
| ENST00000530407.5:n.1208C>G (SLC37A4) | ||
| ENST00000532085.1:n.5076C>G (SLC37A4) | ||
| ENST00000533058.5:c.*207G>C (TRAPPC4) | ENSP00000432920.1:n.*207G>C | |
| ENST00000538950.5:c.839C>G (SLC37A4) | ENSP00000475991.2:p.Ala280Gly | |
| ENST00000545985.5:c.1058C>G (SLC37A4) | ENSP00000475241.2:p.Ala353Gly | |
| NM_001164277.1:c.1058C>G , LRG_187t1:c.1058C>G (SLC37A4) | NP_001157749.1:p.Ala353Gly | |
| NM_001164278.1:c.1124C>G (SLC37A4) | NP_001157750.1:p.Ala375Gly | |
| NM_001164279.1:c.839C>G (SLC37A4) | NP_001157751.1:p.Ala280Gly | |
| NM_001164280.1:c.1058C>G (SLC37A4) | NP_001157752.1:p.Ala353Gly | |
| NM_001467.5:c.1058C>G (SLC37A4) | NP_001458.1:p.Ala353Gly | |
| NM_001164278.2:c.1124C>G (SLC37A4) | NP_001157750.1:p.Ala375Gly | |
| NM_001164279.2:c.839C>G (SLC37A4) | NP_001157751.1:p.Ala280Gly | |
| NM_001164280.2:c.1058C>G (SLC37A4) | NP_001157752.1:p.Ala353Gly | |
| NM_001467.6:c.1058C>G (SLC37A4) | NP_001458.1:p.Ala353Gly | |
| NM_001164277.2:c.1058C>G (SLC37A4) MANE Select | NP_001157749.1:p.Ala353Gly |