Linked Data
ClinVar Variation Id:
556476
ClinVar RCV Id:
RCV000672489
dbSNP Id:
rs1555190420
gnomAD v4:
11-119025140-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025140A>G , CM000673.2:g.119025140A>G | GRCh38 |
| NC_000011.9:g.118895850A>G , CM000673.1:g.118895850A>G | GRCh37 |
| NC_000011.8:g.118401060A>G | NCBI36 |
| NG_013331.1:g.10766T>C , LRG_187:g.10766T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1333+51T>C (SLC37A4) | ||
| ENST00000697845.1:n.2322+51T>C (SLC37A4) | ||
| ENST00000697846.1:n.1695+51T>C (SLC37A4) | ||
| ENST00000697847.1:n.1406+51T>C (SLC37A4) | ||
| ENST00000697849.1:n.3799+51T>C (SLC37A4) | ||
| ENST00000697850.1:n.1990+51T>C (SLC37A4) | ||
| ENST00000697851.1:n.2961+51T>C (SLC37A4) | ||
| ENST00000638186.1:n.1427+51T>C (SLC37A4) | ||
| ENST00000638360.1:n.1259+51T>C (SLC37A4) | ||
| ENST00000638925.1:n.1392+51T>C (SLC37A4) | ||
| ENST00000650539.1:n.1595+51T>C (SLC37A4) | ||
| ENST00000330775.9:c.1123+51T>C (SLC37A4) | ENSP00000476242.2:n.1123+51T>C | |
| ENST00000357590.9:c.1189+51T>C (SLC37A4) | ENSP00000476176.2:n.1189+51T>C | |
| ENST00000524428.5:n.1359+51T>C (SLC37A4) | ||
| ENST00000525039.5:n.1613+51T>C (SLC37A4) | ||
| ENST00000525102.5:n.1881+51T>C (SLC37A4) | ||
| ENST00000525372.5:n.1221+51T>C (SLC37A4) | ||
| ENST00000526275.5:n.1905+51T>C (SLC37A4) | ||
| ENST00000527992.5:n.1351+51T>C (SLC37A4) | ||
| ENST00000530407.5:n.1273+51T>C (SLC37A4) | ||
| ENST00000532085.1:n.5141+51T>C (SLC37A4) | ||
| ENST00000533058.5:c.*91A>G (TRAPPC4) | ENSP00000432920.1:n.*91A>G | |
| ENST00000538950.5:c.904+51T>C (SLC37A4) | ENSP00000475991.2:n.904+51T>C | |
| ENST00000545985.5:c.1123+51T>C (SLC37A4) | ENSP00000475241.2:n.1123+51T>C | |
| NM_001164277.1:c.1123+51T>C , LRG_187t1:c.1123+51T>C (SLC37A4) | NP_001157749.1:n.1123+51T>C | |
| NM_001164278.1:c.1189+51T>C (SLC37A4) | NP_001157750.1:n.1189+51T>C | |
| NM_001164279.1:c.904+51T>C (SLC37A4) | NP_001157751.1:n.904+51T>C | |
| NM_001164280.1:c.1123+51T>C (SLC37A4) | NP_001157752.1:n.1123+51T>C | |
| NM_001467.5:c.1123+51T>C (SLC37A4) | NP_001458.1:n.1123+51T>C | |
| NM_001164278.2:c.1189+51T>C (SLC37A4) | NP_001157750.1:n.1189+51T>C | |
| NM_001164279.2:c.904+51T>C (SLC37A4) | NP_001157751.1:n.904+51T>C | |
| NM_001164280.2:c.1123+51T>C (SLC37A4) | NP_001157752.1:n.1123+51T>C | |
| NM_001467.6:c.1123+51T>C (SLC37A4) | NP_001458.1:n.1123+51T>C | |
| NM_001164277.2:c.1123+51T>C (SLC37A4) MANE Select | NP_001157749.1:n.1123+51T>C |