Linked Data
ClinVar Variation Id:
1014097
ClinVar RCV Id:
RCV001312783
dbSNP Id:
rs771551520
ExAC:
17:6589542 G / A
gnomAD v2:
17-6589542-G-A
gnomAD v3:
17-6686223-G-A
gnomAD v4:
17-6686223-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6686223G>A , CM000679.2:g.6686223G>A | GRCh38 |
| NC_000017.10:g.6589542G>A , CM000679.1:g.6589542G>A | GRCh37 |
| NC_000017.9:g.6530266G>A | NCBI36 |
| NG_034220.1:g.32199C>T , LRG_1020:g.32199C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.1691C>T (SLC13A5) MANE Select | ENSP00000406220.2:p.Thr564Ile | |
| ENST00000635042.1:n.725-6642G>A (C17orf100) | ||
| ENST00000293800.10:c.1640C>T (SLC13A5) | ENSP00000293800.6:p.Thr547Ile | |
| ENST00000381074.8:c.1562C>T (SLC13A5) | ENSP00000370464.4:p.Thr521Ile | |
| ENST00000433363.6:c.1691C>T (SLC13A5) | ENSP00000406220.2:p.Thr564Ile | |
| ENST00000573648.5:c.1553C>T (SLC13A5) | ENSP00000459372.1:p.Thr518Ile | |
| ENST00000574580.2:n.3898C>T (SLC13A5) | ||
| ENST00000634558.1:n.511-3653G>A (ALOX15P1) | ||
| ENST00000634823.1:n.265-6642G>A (ALOX15P1) | ||
| NM_001143838.2:c.1553C>T (SLC13A5) | NP_001137310.1:p.Thr518Ile | |
| NM_001284509.1:c.1640C>T (SLC13A5) | NP_001271438.1:p.Thr547Ile | |
| NM_001284510.1:c.1562C>T (SLC13A5) | NP_001271439.1:p.Thr521Ile | |
| NM_177550.4:c.1691C>T , LRG_1020t1:c.1691C>T (SLC13A5) | NP_808218.1:p.Thr564Ile | |
| XM_006721504.2:c.1580C>T (SLC13A5) | XP_006721567.1:p.Thr527Ile | |
| NM_001143838.3:c.1553C>T (SLC13A5) | NP_001137310.1:p.Thr518Ile | |
| NM_001284509.2:c.1640C>T (SLC13A5) | NP_001271438.1:p.Thr547Ile | |
| NM_001284510.2:c.1562C>T (SLC13A5) | NP_001271439.1:p.Thr521Ile | |
| NM_177550.5:c.1691C>T (SLC13A5) MANE Select | NP_808218.1:p.Thr564Ile |