Canonical Allele Identifier: CA497596588

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1631331
• ClinVar RCV Id: RCV002123983
• dbSNP Id: rs1438628302
• gnomAD v4: 17-6703939-T-C
• MyVariant Identifiers: chr17:g.6607258T>C (hg19) ; chr17:g.6703939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703939T>C , CM000679.2:g.6703939T>C	GRCh38
NC_000017.10:g.6607258T>C , CM000679.1:g.6607258T>C	GRCh37
NC_000017.9:g.6547982T>C	NCBI36
NG_034220.1:g.14483A>G , LRG_1020:g.14483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.486A>G MANE Select	ENSP00000406220.2:p.Thr162=
ENST00000293800.10:c.435A>G	ENSP00000293800.6:p.Thr145=
ENST00000381074.8:c.357A>G	ENSP00000370464.4:p.Thr119=
ENST00000433363.6:c.486A>G	ENSP00000406220.2:p.Thr162=
ENST00000572094.1:c.*236A>G	ENSP00000461495.1:n.*236A>G
ENST00000572352.5:c.375A>G	ENSP00000461622.1:p.Thr125=
ENST00000573648.5:c.486A>G	ENSP00000459372.1:p.Thr162=
ENST00000574824.5:n.1619A>G
ENST00000576323.1:n.516A>G
NM_001143838.2:c.486A>G	NP_001137310.1:p.Thr162=
NM_001284509.1:c.435A>G	NP_001271438.1:p.Thr145=
NM_001284510.1:c.357A>G	NP_001271439.1:p.Thr119=
NM_177550.4:c.486A>G , LRG_1020t1:c.486A>G	NP_808218.1:p.Thr162=
XM_006721504.2:c.375A>G	XP_006721567.1:p.Thr125=
XM_011523795.1:c.486A>G	XP_011522097.1:p.Thr162=
XM_011523795.3:c.486A>G	XP_011522097.1:p.Thr162=
NM_001143838.3:c.486A>G	NP_001137310.1:p.Thr162=
NM_001284509.2:c.435A>G	NP_001271438.1:p.Thr145=
NM_001284510.2:c.357A>G	NP_001271439.1:p.Thr119=
NM_177550.5:c.486A>G MANE Select	NP_808218.1:p.Thr162=