Canonical Allele Identifier: CA397750130

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6607304A>T (hg19) ; chr17:g.6703985A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703985A>T , CM000679.2:g.6703985A>T	GRCh38
NC_000017.10:g.6607304A>T , CM000679.1:g.6607304A>T	GRCh37
NC_000017.9:g.6548028A>T	NCBI36
NG_034220.1:g.14437T>A , LRG_1020:g.14437T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.440T>A MANE Select	ENSP00000406220.2:p.Met147Lys
ENST00000293800.10:c.389T>A	ENSP00000293800.6:p.Met130Lys
ENST00000381074.8:c.311T>A	ENSP00000370464.4:p.Met104Lys
ENST00000433363.6:c.440T>A	ENSP00000406220.2:p.Met147Lys
ENST00000572094.1:c.*190T>A	ENSP00000461495.1:n.*190T>A
ENST00000572352.5:c.329T>A	ENSP00000461622.1:p.Met110Lys
ENST00000573648.5:c.440T>A	ENSP00000459372.1:p.Met147Lys
ENST00000574824.5:n.1573T>A
ENST00000576323.1:n.470T>A
NM_001143838.2:c.440T>A	NP_001137310.1:p.Met147Lys
NM_001284509.1:c.389T>A	NP_001271438.1:p.Met130Lys
NM_001284510.1:c.311T>A	NP_001271439.1:p.Met104Lys
NM_177550.4:c.440T>A , LRG_1020t1:c.440T>A	NP_808218.1:p.Met147Lys
XM_006721504.2:c.329T>A	XP_006721567.1:p.Met110Lys
XM_011523795.1:c.440T>A	XP_011522097.1:p.Met147Lys
XM_011523795.3:c.440T>A	XP_011522097.1:p.Met147Lys
NM_001143838.3:c.440T>A	NP_001137310.1:p.Met147Lys
NM_001284509.2:c.389T>A	NP_001271438.1:p.Met130Lys
NM_001284510.2:c.311T>A	NP_001271439.1:p.Met104Lys
NM_177550.5:c.440T>A MANE Select	NP_808218.1:p.Met147Lys