Canonical Allele Identifier: CA397743574

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1973542227
• MyVariant Identifiers: chr17:g.6599070C>G (hg19) ; chr17:g.6695751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695751C>G , CM000679.2:g.6695751C>G	GRCh38
NC_000017.10:g.6599070C>G , CM000679.1:g.6599070C>G	GRCh37
NC_000017.9:g.6539794C>G	NCBI36
NG_034220.1:g.22671G>C , LRG_1020:g.22671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1030G>C MANE Select	ENSP00000406220.2:p.Val344Leu
ENST00000293800.10:c.979G>C	ENSP00000293800.6:p.Val327Leu
ENST00000381074.8:c.901G>C	ENSP00000370464.4:p.Val301Leu
ENST00000433363.6:c.1030G>C	ENSP00000406220.2:p.Val344Leu
ENST00000572727.1:n.139G>C
ENST00000573648.5:c.1030G>C	ENSP00000459372.1:p.Val344Leu
ENST00000574824.5:n.2163G>C
NM_001143838.2:c.1030G>C	NP_001137310.1:p.Val344Leu
NM_001284509.1:c.979G>C	NP_001271438.1:p.Val327Leu
NM_001284510.1:c.901G>C	NP_001271439.1:p.Val301Leu
NM_177550.4:c.1030G>C , LRG_1020t1:c.1030G>C	NP_808218.1:p.Val344Leu
XM_006721504.2:c.919G>C	XP_006721567.1:p.Val307Leu
XM_011523795.1:c.1030G>C	XP_011522097.1:p.Val344Leu
XM_011523795.3:c.1030G>C	XP_011522097.1:p.Val344Leu
NM_001143838.3:c.1030G>C	NP_001137310.1:p.Val344Leu
NM_001284509.2:c.979G>C	NP_001271438.1:p.Val327Leu
NM_001284510.2:c.901G>C	NP_001271439.1:p.Val301Leu
NM_177550.5:c.1030G>C MANE Select	NP_808218.1:p.Val344Leu