Linked Data
ClinVar Variation Id:
6921
dbSNP Id:
rs80356490
ExAC:
11:118896009 C / A
gnomAD v2:
11-118896009-C-A
gnomAD v3:
11-119025299-C-A
gnomAD v4:
11-119025299-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025299C>A , CM000673.2:g.119025299C>A | GRCh38 |
| NC_000011.9:g.118896009C>A , CM000673.1:g.118896009C>A | GRCh37 |
| NC_000011.8:g.118401219C>A | NCBI36 |
| NG_013331.1:g.10607G>T , LRG_187:g.10607G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1225G>T (SLC37A4) | ||
| ENST00000697845.1:n.2214G>T (SLC37A4) | ||
| ENST00000697846.1:n.1587G>T (SLC37A4) | ||
| ENST00000697847.1:n.1298G>T (SLC37A4) | ||
| ENST00000697849.1:n.3691G>T (SLC37A4) | ||
| ENST00000697850.1:n.1882G>T (SLC37A4) | ||
| ENST00000697851.1:n.2853G>T (SLC37A4) | ||
| ENST00000638186.1:n.1319G>T (SLC37A4) | ||
| ENST00000638360.1:n.1151G>T (SLC37A4) | ||
| ENST00000638925.1:n.1284G>T (SLC37A4) | ||
| ENST00000650539.1:n.1487G>T (SLC37A4) | ||
| ENST00000330775.9:c.1015G>T (SLC37A4) | ENSP00000476242.2:p.Gly339Cys | |
| ENST00000357590.9:c.1081G>T (SLC37A4) | ENSP00000476176.2:p.Gly361Cys | |
| ENST00000524428.5:n.1251G>T (SLC37A4) | ||
| ENST00000525039.5:n.1505G>T (SLC37A4) | ||
| ENST00000525102.5:n.1773G>T (SLC37A4) | ||
| ENST00000525372.5:n.1113G>T (SLC37A4) | ||
| ENST00000526275.5:n.1797G>T (SLC37A4) | ||
| ENST00000527992.5:n.1243G>T (SLC37A4) | ||
| ENST00000529510.5:n.703G>T (SLC37A4) | ||
| ENST00000530407.5:n.1165G>T (SLC37A4) | ||
| ENST00000532085.1:n.5033G>T (SLC37A4) | ||
| ENST00000533058.5:c.*250C>A (TRAPPC4) | ENSP00000432920.1:n.*250C>A | |
| ENST00000538950.5:c.796G>T (SLC37A4) | ENSP00000475991.2:p.Gly266Cys | |
| ENST00000545985.5:c.1015G>T (SLC37A4) | ENSP00000475241.2:p.Gly339Cys | |
| NM_001164277.1:c.1015G>T , LRG_187t1:c.1015G>T (SLC37A4) | NP_001157749.1:p.Gly339Cys | |
| NM_001164278.1:c.1081G>T (SLC37A4) | NP_001157750.1:p.Gly361Cys | |
| NM_001164279.1:c.796G>T (SLC37A4) | NP_001157751.1:p.Gly266Cys | |
| NM_001164280.1:c.1015G>T (SLC37A4) | NP_001157752.1:p.Gly339Cys | |
| NM_001467.5:c.1015G>T (SLC37A4) | NP_001458.1:p.Gly339Cys | |
| NM_001164278.2:c.1081G>T (SLC37A4) | NP_001157750.1:p.Gly361Cys | |
| NM_001164279.2:c.796G>T (SLC37A4) | NP_001157751.1:p.Gly266Cys | |
| NM_001164280.2:c.1015G>T (SLC37A4) | NP_001157752.1:p.Gly339Cys | |
| NM_001467.6:c.1015G>T (SLC37A4) | NP_001458.1:p.Gly339Cys | |
| NM_001164277.2:c.1015G>T (SLC37A4) MANE Select | NP_001157749.1:p.Gly339Cys |