Linked Data
ClinVar Variation Id:
2546282
ClinVar RCV Id:
RCV003292650
dbSNP Id:
rs1221511903
gnomAD v2:
17-6590859-C-A
gnomAD v3:
17-6687540-C-A
gnomAD v4:
17-6687540-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6687540C>A , CM000679.2:g.6687540C>A | GRCh38 |
| NC_000017.10:g.6590859C>A , CM000679.1:g.6590859C>A | GRCh37 |
| NC_000017.9:g.6531583C>A | NCBI36 |
| NG_034220.1:g.30882G>T , LRG_1020:g.30882G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1564G>T (SLC13A5) MANE Select | ENSP00000406220.2:p.Val522Phe | |
| ENST00000635042.1:n.725-5325C>A (C17orf100) | ||
| ENST00000293800.10:c.1513G>T (SLC13A5) | ENSP00000293800.6:p.Val505Phe | |
| ENST00000381074.8:c.1435G>T (SLC13A5) | ENSP00000370464.4:p.Val479Phe | |
| ENST00000433363.6:c.1564G>T (SLC13A5) | ENSP00000406220.2:p.Val522Phe | |
| ENST00000570687.1:c.233G>T (SLC13A5) | ||
| ENST00000573648.5:c.1438-1202G>T (SLC13A5) | ENSP00000459372.1:n.1438-1202G>T | |
| ENST00000574580.2:n.2581G>T (SLC13A5) | ||
| ENST00000634558.1:n.511-2336C>A (ALOX15P1) | ||
| ENST00000634823.1:n.265-5325C>A (ALOX15P1) | ||
| NM_001143838.2:c.1438-1202G>T (SLC13A5) | NP_001137310.1:n.1438-1202G>T | |
| NM_001284509.1:c.1513G>T (SLC13A5) | NP_001271438.1:p.Val505Phe | |
| NM_001284510.1:c.1435G>T (SLC13A5) | NP_001271439.1:p.Val479Phe | |
| NM_177550.4:c.1564G>T , LRG_1020t1:c.1564G>T (SLC13A5) | NP_808218.1:p.Val522Phe | |
| XM_006721504.2:c.1453G>T (SLC13A5) | XP_006721567.1:p.Val485Phe | |
| XM_011523795.3:c.*237G>T (SLC13A5) | XP_011522097.1:n.*237G>T | |
| NM_001143838.3:c.1438-1202G>T (SLC13A5) | NP_001137310.1:n.1438-1202G>T | |
| NM_001284509.2:c.1513G>T (SLC13A5) | NP_001271438.1:p.Val505Phe | |
| NM_001284510.2:c.1435G>T (SLC13A5) | NP_001271439.1:p.Val479Phe | |
| NM_177550.5:c.1564G>T (SLC13A5) MANE Select | NP_808218.1:p.Val522Phe |