Linked Data
ClinVar Variation Id:
1082707
ClinVar RCV Id:
RCV001399098
dbSNP Id:
rs759151984
ExAC:
17:6590913 A / G
gnomAD v2:
17-6590913-A-G
gnomAD v4:
17-6687594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6687594A>G , CM000679.2:g.6687594A>G | GRCh38 |
| NC_000017.10:g.6590913A>G , CM000679.1:g.6590913A>G | GRCh37 |
| NC_000017.9:g.6531637A>G | NCBI36 |
| NG_034220.1:g.30828T>C , LRG_1020:g.30828T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1510T>C (SLC13A5) MANE Select | ENSP00000406220.2:p.Leu504= | |
| ENST00000635042.1:n.725-5271A>G (C17orf100) | ||
| ENST00000293800.10:c.1459T>C (SLC13A5) | ENSP00000293800.6:p.Leu487= | |
| ENST00000381074.8:c.1381T>C (SLC13A5) | ENSP00000370464.4:p.Leu461= | |
| ENST00000433363.6:c.1510T>C (SLC13A5) | ENSP00000406220.2:p.Leu504= | |
| ENST00000570687.1:c.179T>C (SLC13A5) | ||
| ENST00000573648.5:c.1438-1256T>C (SLC13A5) | ENSP00000459372.1:n.1438-1256T>C | |
| ENST00000574580.2:n.2527T>C (SLC13A5) | ||
| ENST00000634558.1:n.511-2282A>G (ALOX15P1) | ||
| ENST00000634823.1:n.265-5271A>G (ALOX15P1) | ||
| NM_001143838.2:c.1438-1256T>C (SLC13A5) | NP_001137310.1:n.1438-1256T>C | |
| NM_001284509.1:c.1459T>C (SLC13A5) | NP_001271438.1:p.Leu487= | |
| NM_001284510.1:c.1381T>C (SLC13A5) | NP_001271439.1:p.Leu461= | |
| NM_177550.4:c.1510T>C , LRG_1020t1:c.1510T>C (SLC13A5) | NP_808218.1:p.Leu504= | |
| XM_006721504.2:c.1399T>C (SLC13A5) | XP_006721567.1:p.Leu467= | |
| XM_011523795.3:c.*183T>C (SLC13A5) | XP_011522097.1:n.*183T>C | |
| NM_001143838.3:c.1438-1256T>C (SLC13A5) | NP_001137310.1:n.1438-1256T>C | |
| NM_001284509.2:c.1459T>C (SLC13A5) | NP_001271438.1:p.Leu487= | |
| NM_001284510.2:c.1381T>C (SLC13A5) | NP_001271439.1:p.Leu461= | |
| NM_177550.5:c.1510T>C (SLC13A5) MANE Select | NP_808218.1:p.Leu504= |