Linked Data
ClinVar Variation Id:
557397
ClinVar RCV Id:
RCV000673533
dbSNP Id:
rs1221264103
gnomAD v2:
11-118895608-C-T
gnomAD v4:
11-119024898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024898C>T , CM000673.2:g.119024898C>T | GRCh38 |
| NC_000011.9:g.118895608C>T , CM000673.1:g.118895608C>T | GRCh37 |
| NC_000011.8:g.118400818C>T | NCBI36 |
| NG_013331.1:g.11008G>A , LRG_187:g.11008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1512G>A (SLC37A4) | ||
| ENST00000697845.1:n.2501G>A (SLC37A4) | ||
| ENST00000697846.1:n.1874G>A (SLC37A4) | ||
| ENST00000697847.1:n.1585G>A (SLC37A4) | ||
| ENST00000697849.1:n.3978G>A (SLC37A4) | ||
| ENST00000697850.1:n.2169G>A (SLC37A4) | ||
| ENST00000697851.1:n.3140G>A (SLC37A4) | ||
| ENST00000638186.1:n.1606G>A (SLC37A4) | ||
| ENST00000638360.1:n.1438G>A (SLC37A4) | ||
| ENST00000638925.1:n.1571G>A (SLC37A4) | ||
| ENST00000650539.1:n.1774G>A (SLC37A4) | ||
| ENST00000330775.9:c.*12G>A (SLC37A4) | ENSP00000476242.2:n.*12G>A | |
| ENST00000357590.9:c.*12G>A (SLC37A4) | ENSP00000476176.2:n.*12G>A | |
| ENST00000525102.5:n.2060G>A (SLC37A4) | ||
| ENST00000526275.5:n.2084G>A (SLC37A4) | ||
| ENST00000527992.5:n.1530G>A (SLC37A4) | ||
| ENST00000530407.5:n.1452G>A (SLC37A4) | ||
| ENST00000532085.1:n.5320G>A (SLC37A4) | ||
| ENST00000533058.5:c.623C>T (TRAPPC4) | ENSP00000432920.1:p.Thr208Ile | |
| ENST00000538950.5:c.*12G>A (SLC37A4) | ENSP00000475991.2:n.*12G>A | |
| ENST00000545985.5:c.*12G>A (SLC37A4) | ENSP00000475241.2:n.*12G>A | |
| NM_001164277.1:c.*12G>A , LRG_187t1:c.*12G>A (SLC37A4) | NP_001157749.1:n.*12G>A | |
| NM_001164278.1:c.*12G>A (SLC37A4) | NP_001157750.1:n.*12G>A | |
| NM_001164279.1:c.*12G>A (SLC37A4) | NP_001157751.1:n.*12G>A | |
| NM_001164280.1:c.*12G>A (SLC37A4) | NP_001157752.1:n.*12G>A | |
| NM_001467.5:c.*12G>A (SLC37A4) | NP_001458.1:n.*12G>A | |
| NM_001164278.2:c.*12G>A (SLC37A4) | NP_001157750.1:n.*12G>A | |
| NM_001164279.2:c.*12G>A (SLC37A4) | NP_001157751.1:n.*12G>A | |
| NM_001164280.2:c.*12G>A (SLC37A4) | NP_001157752.1:n.*12G>A | |
| NM_001467.6:c.*12G>A (SLC37A4) | NP_001458.1:n.*12G>A | |
| NM_001164277.2:c.*12G>A (SLC37A4) MANE Select | NP_001157749.1:n.*12G>A |