Linked Data
ClinVar Variation Id:
6922
ClinVar RCV Id:
RCV000007331
dbSNP Id:
rs121908975
gnomAD v4:
11-119025251-C-A
PubMed:
PMID:9428641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025251C>A , CM000673.2:g.119025251C>A | GRCh38 |
| NC_000011.9:g.118895961C>A , CM000673.1:g.118895961C>A | GRCh37 |
| NC_000011.8:g.118401171C>A | NCBI36 |
| NG_013331.1:g.10655G>T , LRG_187:g.10655G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1273G>T (SLC37A4) | ||
| ENST00000697845.1:n.2262G>T (SLC37A4) | ||
| ENST00000697846.1:n.1635G>T (SLC37A4) | ||
| ENST00000697847.1:n.1346G>T (SLC37A4) | ||
| ENST00000697849.1:n.3739G>T (SLC37A4) | ||
| ENST00000697850.1:n.1930G>T (SLC37A4) | ||
| ENST00000697851.1:n.2901G>T (SLC37A4) | ||
| ENST00000638186.1:n.1367G>T (SLC37A4) | ||
| ENST00000638360.1:n.1199G>T (SLC37A4) | ||
| ENST00000638925.1:n.1332G>T (SLC37A4) | ||
| ENST00000650539.1:n.1535G>T (SLC37A4) | ||
| ENST00000330775.9:c.1063G>T (SLC37A4) | ENSP00000476242.2:p.Glu355Ter | |
| ENST00000357590.9:c.1129G>T (SLC37A4) | ENSP00000476176.2:p.Glu377Ter | |
| ENST00000524428.5:n.1299G>T (SLC37A4) | ||
| ENST00000525039.5:n.1553G>T (SLC37A4) | ||
| ENST00000525102.5:n.1821G>T (SLC37A4) | ||
| ENST00000525372.5:n.1161G>T (SLC37A4) | ||
| ENST00000526275.5:n.1845G>T (SLC37A4) | ||
| ENST00000527992.5:n.1291G>T (SLC37A4) | ||
| ENST00000529510.5:n.751G>T (SLC37A4) | ||
| ENST00000530407.5:n.1213G>T (SLC37A4) | ||
| ENST00000532085.1:n.5081G>T (SLC37A4) | ||
| ENST00000533058.5:c.*202C>A (TRAPPC4) | ENSP00000432920.1:n.*202C>A | |
| ENST00000538950.5:c.844G>T (SLC37A4) | ENSP00000475991.2:p.Glu282Ter | |
| ENST00000545985.5:c.1063G>T (SLC37A4) | ENSP00000475241.2:p.Glu355Ter | |
| NM_001164277.1:c.1063G>T , LRG_187t1:c.1063G>T (SLC37A4) | NP_001157749.1:p.Glu355Ter | |
| NM_001164278.1:c.1129G>T (SLC37A4) | NP_001157750.1:p.Glu377Ter | |
| NM_001164279.1:c.844G>T (SLC37A4) | NP_001157751.1:p.Glu282Ter | |
| NM_001164280.1:c.1063G>T (SLC37A4) | NP_001157752.1:p.Glu355Ter | |
| NM_001467.5:c.1063G>T (SLC37A4) | NP_001458.1:p.Glu355Ter | |
| NM_001164278.2:c.1129G>T (SLC37A4) | NP_001157750.1:p.Glu377Ter | |
| NM_001164279.2:c.844G>T (SLC37A4) | NP_001157751.1:p.Glu282Ter | |
| NM_001164280.2:c.1063G>T (SLC37A4) | NP_001157752.1:p.Glu355Ter | |
| NM_001467.6:c.1063G>T (SLC37A4) | NP_001458.1:p.Glu355Ter | |
| NM_001164277.2:c.1063G>T (SLC37A4) MANE Select | NP_001157749.1:p.Glu355Ter |