Linked Data
dbSNP Id:
rs1171891404
gnomAD v2:
11-118896015-C-T
gnomAD v3:
11-119025305-C-T
gnomAD v4:
11-119025305-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025305C>T , CM000673.2:g.119025305C>T | GRCh38 |
| NC_000011.9:g.118896015C>T , CM000673.1:g.118896015C>T | GRCh37 |
| NC_000011.8:g.118401225C>T | NCBI36 |
| NG_013331.1:g.10601G>A , LRG_187:g.10601G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1219G>A (SLC37A4) | ||
| ENST00000697845.1:n.2208G>A (SLC37A4) | ||
| ENST00000697846.1:n.1581G>A (SLC37A4) | ||
| ENST00000697847.1:n.1292G>A (SLC37A4) | ||
| ENST00000697849.1:n.3685G>A (SLC37A4) | ||
| ENST00000697850.1:n.1876G>A (SLC37A4) | ||
| ENST00000697851.1:n.2847G>A (SLC37A4) | ||
| ENST00000638186.1:n.1313G>A (SLC37A4) | ||
| ENST00000638360.1:n.1145G>A (SLC37A4) | ||
| ENST00000638925.1:n.1278G>A (SLC37A4) | ||
| ENST00000650539.1:n.1481G>A (SLC37A4) | ||
| ENST00000330775.9:c.1009G>A (SLC37A4) | ENSP00000476242.2:p.Val337Ile | |
| ENST00000357590.9:c.1075G>A (SLC37A4) | ENSP00000476176.2:p.Val359Ile | |
| ENST00000524428.5:n.1245G>A (SLC37A4) | ||
| ENST00000525039.5:n.1499G>A (SLC37A4) | ||
| ENST00000525102.5:n.1767G>A (SLC37A4) | ||
| ENST00000525372.5:n.1107G>A (SLC37A4) | ||
| ENST00000526275.5:n.1791G>A (SLC37A4) | ||
| ENST00000527992.5:n.1237G>A (SLC37A4) | ||
| ENST00000529510.5:n.697G>A (SLC37A4) | ||
| ENST00000530407.5:n.1159G>A (SLC37A4) | ||
| ENST00000532085.1:n.5027G>A (SLC37A4) | ||
| ENST00000533058.5:c.*256C>T (TRAPPC4) | ENSP00000432920.1:n.*256C>T | |
| ENST00000538950.5:c.790G>A (SLC37A4) | ENSP00000475991.2:p.Val264Ile | |
| ENST00000545985.5:c.1009G>A (SLC37A4) | ENSP00000475241.2:p.Val337Ile | |
| NM_001164277.1:c.1009G>A , LRG_187t1:c.1009G>A (SLC37A4) | NP_001157749.1:p.Val337Ile | |
| NM_001164278.1:c.1075G>A (SLC37A4) | NP_001157750.1:p.Val359Ile | |
| NM_001164279.1:c.790G>A (SLC37A4) | NP_001157751.1:p.Val264Ile | |
| NM_001164280.1:c.1009G>A (SLC37A4) | NP_001157752.1:p.Val337Ile | |
| NM_001467.5:c.1009G>A (SLC37A4) | NP_001458.1:p.Val337Ile | |
| NM_001164278.2:c.1075G>A (SLC37A4) | NP_001157750.1:p.Val359Ile | |
| NM_001164279.2:c.790G>A (SLC37A4) | NP_001157751.1:p.Val264Ile | |
| NM_001164280.2:c.1009G>A (SLC37A4) | NP_001157752.1:p.Val337Ile | |
| NM_001467.6:c.1009G>A (SLC37A4) | NP_001458.1:p.Val337Ile | |
| NM_001164277.2:c.1009G>A (SLC37A4) MANE Select | NP_001157749.1:p.Val337Ile |