Canonical Allele Identifier: CA8331561

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 960537
• ClinVar RCV Id: RCV001234080 ; RCV001760242
• dbSNP Id: rs146116408
• ExAC: 17:6599130 A / G
• gnomAD v3: 17-6695811-A-G
• gnomAD v4: 17-6695811-A-G
• MyVariant Identifiers: chr17:g.6599130A>G (hg19) ; chr17:g.6695811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695811A>G , CM000679.2:g.6695811A>G	GRCh38
NC_000017.10:g.6599130A>G , CM000679.1:g.6599130A>G	GRCh37
NC_000017.9:g.6539854A>G	NCBI36
NG_034220.1:g.22611T>C , LRG_1020:g.22611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.970T>C MANE Select	ENSP00000406220.2:p.Phe324Leu
ENST00000293800.10:c.919T>C	ENSP00000293800.6:p.Phe307Leu
ENST00000381074.8:c.841T>C	ENSP00000370464.4:p.Phe281Leu
ENST00000433363.6:c.970T>C	ENSP00000406220.2:p.Phe324Leu
ENST00000572727.1:n.79T>C
ENST00000573648.5:c.970T>C	ENSP00000459372.1:p.Phe324Leu
ENST00000574824.5:n.2103T>C
NM_001143838.2:c.970T>C	NP_001137310.1:p.Phe324Leu
NM_001284509.1:c.919T>C	NP_001271438.1:p.Phe307Leu
NM_001284510.1:c.841T>C	NP_001271439.1:p.Phe281Leu
NM_177550.4:c.970T>C , LRG_1020t1:c.970T>C	NP_808218.1:p.Phe324Leu
XM_006721504.2:c.859T>C	XP_006721567.1:p.Phe287Leu
XM_011523795.1:c.970T>C	XP_011522097.1:p.Phe324Leu
XM_011523795.3:c.970T>C	XP_011522097.1:p.Phe324Leu
NM_001143838.3:c.970T>C	NP_001137310.1:p.Phe324Leu
NM_001284509.2:c.919T>C	NP_001271438.1:p.Phe307Leu
NM_001284510.2:c.841T>C	NP_001271439.1:p.Phe281Leu
NM_177550.5:c.970T>C MANE Select	NP_808218.1:p.Phe324Leu