Linked Data
ClinVar Variation Id:
1141238
ClinVar RCV Id:
RCV001478608
dbSNP Id:
rs769760541
ExAC:
17:6590974 G / A
gnomAD v2:
17-6590974-G-A
gnomAD v3:
17-6687655-G-A
gnomAD v4:
17-6687655-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6687655G>A , CM000679.2:g.6687655G>A | GRCh38 |
| NC_000017.10:g.6590974G>A , CM000679.1:g.6590974G>A | GRCh37 |
| NC_000017.9:g.6531698G>A | NCBI36 |
| NG_034220.1:g.30767C>T , LRG_1020:g.30767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1449C>T (SLC13A5) MANE Select | ENSP00000406220.2:p.Ile483= | |
| ENST00000635042.1:n.725-5210G>A (C17orf100) | ||
| ENST00000293800.10:c.1398C>T (SLC13A5) | ENSP00000293800.6:p.Ile466= | |
| ENST00000381074.8:c.1320C>T (SLC13A5) | ENSP00000370464.4:p.Ile440= | |
| ENST00000433363.6:c.1449C>T (SLC13A5) | ENSP00000406220.2:p.Ile483= | |
| ENST00000570687.1:c.118C>T (SLC13A5) | ||
| ENST00000573648.5:c.1438-1317C>T (SLC13A5) | ENSP00000459372.1:n.1438-1317C>T | |
| ENST00000574580.2:n.2466C>T (SLC13A5) | ||
| ENST00000634558.1:n.511-2221G>A (ALOX15P1) | ||
| ENST00000634823.1:n.265-5210G>A (ALOX15P1) | ||
| NM_001143838.2:c.1438-1317C>T (SLC13A5) | NP_001137310.1:n.1438-1317C>T | |
| NM_001284509.1:c.1398C>T (SLC13A5) | NP_001271438.1:p.Ile466= | |
| NM_001284510.1:c.1320C>T (SLC13A5) | NP_001271439.1:p.Ile440= | |
| NM_177550.4:c.1449C>T , LRG_1020t1:c.1449C>T (SLC13A5) | NP_808218.1:p.Ile483= | |
| XM_006721504.2:c.1338C>T (SLC13A5) | XP_006721567.1:p.Ile446= | |
| XM_011523795.3:c.*122C>T (SLC13A5) | XP_011522097.1:n.*122C>T | |
| NM_001143838.3:c.1438-1317C>T (SLC13A5) | NP_001137310.1:n.1438-1317C>T | |
| NM_001284509.2:c.1398C>T (SLC13A5) | NP_001271438.1:p.Ile466= | |
| NM_001284510.2:c.1320C>T (SLC13A5) | NP_001271439.1:p.Ile440= | |
| NM_177550.5:c.1449C>T (SLC13A5) MANE Select | NP_808218.1:p.Ile483= |