Linked Data
ClinVar Variation Id:
512307
dbSNP Id:
rs782587864
ExAC:
11:118895926 G / A
gnomAD v2:
11-118895926-G-A
gnomAD v3:
11-119025216-G-A
gnomAD v4:
11-119025216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025216G>A , CM000673.2:g.119025216G>A | GRCh38 |
| NC_000011.9:g.118895926G>A , CM000673.1:g.118895926G>A | GRCh37 |
| NC_000011.8:g.118401136G>A | NCBI36 |
| NG_013331.1:g.10690C>T , LRG_187:g.10690C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1308C>T (SLC37A4) | ||
| ENST00000697845.1:n.2297C>T (SLC37A4) | ||
| ENST00000697846.1:n.1670C>T (SLC37A4) | ||
| ENST00000697847.1:n.1381C>T (SLC37A4) | ||
| ENST00000697849.1:n.3774C>T (SLC37A4) | ||
| ENST00000697850.1:n.1965C>T (SLC37A4) | ||
| ENST00000697851.1:n.2936C>T (SLC37A4) | ||
| ENST00000638186.1:n.1402C>T (SLC37A4) | ||
| ENST00000638360.1:n.1234C>T (SLC37A4) | ||
| ENST00000638925.1:n.1367C>T (SLC37A4) | ||
| ENST00000650539.1:n.1570C>T (SLC37A4) | ||
| ENST00000330775.9:c.1098C>T (SLC37A4) | ENSP00000476242.2:p.His366= | |
| ENST00000357590.9:c.1164C>T (SLC37A4) | ENSP00000476176.2:p.His388= | |
| ENST00000524428.5:n.1334C>T (SLC37A4) | ||
| ENST00000525039.5:n.1588C>T (SLC37A4) | ||
| ENST00000525102.5:n.1856C>T (SLC37A4) | ||
| ENST00000525372.5:n.1196C>T (SLC37A4) | ||
| ENST00000526275.5:n.1880C>T (SLC37A4) | ||
| ENST00000527992.5:n.1326C>T (SLC37A4) | ||
| ENST00000529510.5:n.786C>T (SLC37A4) | ||
| ENST00000530407.5:n.1248C>T (SLC37A4) | ||
| ENST00000532085.1:n.5116C>T (SLC37A4) | ||
| ENST00000533058.5:c.*167G>A (TRAPPC4) | ENSP00000432920.1:n.*167G>A | |
| ENST00000538950.5:c.879C>T (SLC37A4) | ENSP00000475991.2:p.His293= | |
| ENST00000545985.5:c.1098C>T (SLC37A4) | ENSP00000475241.2:p.His366= | |
| NM_001164277.1:c.1098C>T , LRG_187t1:c.1098C>T (SLC37A4) | NP_001157749.1:p.His366= | |
| NM_001164278.1:c.1164C>T (SLC37A4) | NP_001157750.1:p.His388= | |
| NM_001164279.1:c.879C>T (SLC37A4) | NP_001157751.1:p.His293= | |
| NM_001164280.1:c.1098C>T (SLC37A4) | NP_001157752.1:p.His366= | |
| NM_001467.5:c.1098C>T (SLC37A4) | NP_001458.1:p.His366= | |
| NM_001164278.2:c.1164C>T (SLC37A4) | NP_001157750.1:p.His388= | |
| NM_001164279.2:c.879C>T (SLC37A4) | NP_001157751.1:p.His293= | |
| NM_001164280.2:c.1098C>T (SLC37A4) | NP_001157752.1:p.His366= | |
| NM_001467.6:c.1098C>T (SLC37A4) | NP_001458.1:p.His366= | |
| NM_001164277.2:c.1098C>T (SLC37A4) MANE Select | NP_001157749.1:p.His366= |