Canonical Allele Identifier: CA8331722
Gene: SLC13A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 422076
dbSNP Id: rs140389204
gnomAD v2: 17-6607353-C-T
gnomAD v3: 17-6704034-C-T
gnomAD v4: 17-6704034-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6704034C>T , CM000679.2:g.6704034C>T GRCh38
NC_000017.10:g.6607353C>T , CM000679.1:g.6607353C>T GRCh37
NC_000017.9:g.6548077C>T NCBI36
NG_034220.1:g.14388G>A , LRG_1020:g.14388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.391G>A MANE Select ENSP00000406220.2:p.Val131Ile
ENST00000293800.10:c.369-29G>A ENSP00000293800.6:n.369-29G>A
ENST00000381074.8:c.262G>A ENSP00000370464.4:p.Val88Ile
ENST00000433363.6:c.391G>A ENSP00000406220.2:p.Val131Ile
ENST00000572094.1:c.*141G>A ENSP00000461495.1:n.*141G>A
ENST00000572352.5:c.280G>A ENSP00000461622.1:p.Val94Ile
ENST00000573648.5:c.391G>A ENSP00000459372.1:p.Val131Ile
ENST00000574824.5:n.1524G>A
ENST00000576323.1:n.421G>A
NM_001143838.2:c.391G>A NP_001137310.1:p.Val131Ile
NM_001284509.1:c.369-29G>A NP_001271438.1:n.369-29G>A
NM_001284510.1:c.262G>A NP_001271439.1:p.Val88Ile
NM_177550.4:c.391G>A , LRG_1020t1:c.391G>A NP_808218.1:p.Val131Ile
XM_006721504.2:c.280G>A XP_006721567.1:p.Val94Ile
XM_011523795.1:c.391G>A XP_011522097.1:p.Val131Ile
XM_011523795.3:c.391G>A XP_011522097.1:p.Val131Ile
NM_001143838.3:c.391G>A NP_001137310.1:p.Val131Ile
NM_001284509.2:c.369-29G>A NP_001271438.1:n.369-29G>A
NM_001284510.2:c.262G>A NP_001271439.1:p.Val88Ile
NM_177550.5:c.391G>A MANE Select NP_808218.1:p.Val131Ile