Linked Data
ClinVar Variation Id:
302703
dbSNP Id:
rs373050741
ExAC:
11:118895615 T / G
gnomAD v2:
11-118895615-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024905T>G , CM000673.2:g.119024905T>G | GRCh38 |
| NC_000011.9:g.118895615T>G , CM000673.1:g.118895615T>G | GRCh37 |
| NC_000011.8:g.118400825T>G | NCBI36 |
| NG_013331.1:g.11001A>C , LRG_187:g.11001A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1505A>C (SLC37A4) | ||
| ENST00000697845.1:n.2494A>C (SLC37A4) | ||
| ENST00000697846.1:n.1867A>C (SLC37A4) | ||
| ENST00000697847.1:n.1578A>C (SLC37A4) | ||
| ENST00000697849.1:n.3971A>C (SLC37A4) | ||
| ENST00000697850.1:n.2162A>C (SLC37A4) | ||
| ENST00000697851.1:n.3133A>C (SLC37A4) | ||
| ENST00000638186.1:n.1599A>C (SLC37A4) | ||
| ENST00000638360.1:n.1431A>C (SLC37A4) | ||
| ENST00000638925.1:n.1564A>C (SLC37A4) | ||
| ENST00000650539.1:n.1767A>C (SLC37A4) | ||
| ENST00000330775.9:c.*5A>C (SLC37A4) | ENSP00000476242.2:n.*5A>C | |
| ENST00000357590.9:c.*5A>C (SLC37A4) | ENSP00000476176.2:n.*5A>C | |
| ENST00000525102.5:n.2053A>C (SLC37A4) | ||
| ENST00000526275.5:n.2077A>C (SLC37A4) | ||
| ENST00000527992.5:n.1523A>C (SLC37A4) | ||
| ENST00000530407.5:n.1445A>C (SLC37A4) | ||
| ENST00000532085.1:n.5313A>C (SLC37A4) | ||
| ENST00000533058.5:c.630T>G (TRAPPC4) | ENSP00000432920.1:p.Thr210= | |
| ENST00000538950.5:c.*5A>C (SLC37A4) | ENSP00000475991.2:n.*5A>C | |
| ENST00000545985.5:c.*5A>C (SLC37A4) | ENSP00000475241.2:n.*5A>C | |
| NM_001164277.1:c.*5A>C , LRG_187t1:c.*5A>C (SLC37A4) | NP_001157749.1:n.*5A>C | |
| NM_001164278.1:c.*5A>C (SLC37A4) | NP_001157750.1:n.*5A>C | |
| NM_001164279.1:c.*5A>C (SLC37A4) | NP_001157751.1:n.*5A>C | |
| NM_001164280.1:c.*5A>C (SLC37A4) | NP_001157752.1:n.*5A>C | |
| NM_001467.5:c.*5A>C (SLC37A4) | NP_001458.1:n.*5A>C | |
| NM_001164278.2:c.*5A>C (SLC37A4) | NP_001157750.1:n.*5A>C | |
| NM_001164279.2:c.*5A>C (SLC37A4) | NP_001157751.1:n.*5A>C | |
| NM_001164280.2:c.*5A>C (SLC37A4) | NP_001157752.1:n.*5A>C | |
| NM_001467.6:c.*5A>C (SLC37A4) | NP_001458.1:n.*5A>C | |
| NM_001164277.2:c.*5A>C (SLC37A4) MANE Select | NP_001157749.1:n.*5A>C |