Linked Data
ClinVar Variation Id:
2095478
ClinVar RCV Id:
RCV003013810
dbSNP Id:
rs1567612345
gnomAD v2:
17-6589611-A-G
gnomAD v3:
17-6686292-A-G
gnomAD v4:
17-6686292-A-G
MyVariant Identifiers:
chr17:g.6589611A>G (hg19)
chr17:g.6589611_6589613delinsGAC (hg19)
chr17:g.6686292A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6686292A>G , CM000679.2:g.6686292A>G | GRCh38 |
| NC_000017.10:g.6589611A>G , CM000679.1:g.6589611A>G | GRCh37 |
| NC_000017.9:g.6530335A>G | NCBI36 |
| NG_034220.1:g.32130T>C , LRG_1020:g.32130T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1622T>C (SLC13A5) MANE Select | ENSP00000406220.2:p.Phe541Ser | |
| ENST00000635042.1:n.725-6573A>G (C17orf100) | ||
| ENST00000293800.10:c.1571T>C (SLC13A5) | ENSP00000293800.6:p.Phe524Ser | |
| ENST00000381074.8:c.1493T>C (SLC13A5) | ENSP00000370464.4:p.Phe498Ser | |
| ENST00000433363.6:c.1622T>C (SLC13A5) | ENSP00000406220.2:p.Phe541Ser | |
| ENST00000573648.5:c.1484T>C (SLC13A5) | ENSP00000459372.1:p.Phe495Ser | |
| ENST00000574580.2:n.3829T>C (SLC13A5) | ||
| ENST00000634558.1:n.511-3584A>G (ALOX15P1) | ||
| ENST00000634823.1:n.265-6573A>G (ALOX15P1) | ||
| NM_001143838.2:c.1484T>C (SLC13A5) | NP_001137310.1:p.Phe495Ser | |
| NM_001284509.1:c.1571T>C (SLC13A5) | NP_001271438.1:p.Phe524Ser | |
| NM_001284510.1:c.1493T>C (SLC13A5) | NP_001271439.1:p.Phe498Ser | |
| NM_177550.4:c.1622T>C , LRG_1020t1:c.1622T>C (SLC13A5) | NP_808218.1:p.Phe541Ser | |
| XM_006721504.2:c.1511T>C (SLC13A5) | XP_006721567.1:p.Phe504Ser | |
| NM_001143838.3:c.1484T>C (SLC13A5) | NP_001137310.1:p.Phe495Ser | |
| NM_001284509.2:c.1571T>C (SLC13A5) | NP_001271438.1:p.Phe524Ser | |
| NM_001284510.2:c.1493T>C (SLC13A5) | NP_001271439.1:p.Phe498Ser | |
| NM_177550.5:c.1622T>C (SLC13A5) MANE Select | NP_808218.1:p.Phe541Ser |