Canonical Allele Identifier: CA397737954
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

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