Canonical Allele Identifier: CA397750085

Gene: SLC13A5

Linked Data

• COSMIC: COSM1630357
• MyVariant Identifiers: chr17:g.6607284C>T (hg19) ; chr17:g.6703965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703965C>T , CM000679.2:g.6703965C>T	GRCh38
NC_000017.10:g.6607284C>T , CM000679.1:g.6607284C>T	GRCh37
NC_000017.9:g.6548008C>T	NCBI36
NG_034220.1:g.14457G>A , LRG_1020:g.14457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.460G>A MANE Select	ENSP00000406220.2:p.Ala154Thr
ENST00000293800.10:c.409G>A	ENSP00000293800.6:p.Ala137Thr
ENST00000381074.8:c.331G>A	ENSP00000370464.4:p.Ala111Thr
ENST00000433363.6:c.460G>A	ENSP00000406220.2:p.Ala154Thr
ENST00000572094.1:c.*210G>A	ENSP00000461495.1:n.*210G>A
ENST00000572352.5:c.349G>A	ENSP00000461622.1:p.Ala117Thr
ENST00000573648.5:c.460G>A	ENSP00000459372.1:p.Ala154Thr
ENST00000574824.5:n.1593G>A
ENST00000576323.1:n.490G>A
NM_001143838.2:c.460G>A	NP_001137310.1:p.Ala154Thr
NM_001284509.1:c.409G>A	NP_001271438.1:p.Ala137Thr
NM_001284510.1:c.331G>A	NP_001271439.1:p.Ala111Thr
NM_177550.4:c.460G>A , LRG_1020t1:c.460G>A	NP_808218.1:p.Ala154Thr
XM_006721504.2:c.349G>A	XP_006721567.1:p.Ala117Thr
XM_011523795.1:c.460G>A	XP_011522097.1:p.Ala154Thr
XM_011523795.3:c.460G>A	XP_011522097.1:p.Ala154Thr
NM_001143838.3:c.460G>A	NP_001137310.1:p.Ala154Thr
NM_001284509.2:c.409G>A	NP_001271438.1:p.Ala137Thr
NM_001284510.2:c.331G>A	NP_001271439.1:p.Ala111Thr
NM_177550.5:c.460G>A MANE Select	NP_808218.1:p.Ala154Thr