Canonical Allele Identifier: CA397750018

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6607255G>T (hg19) ; chr17:g.6703936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703936G>T , CM000679.2:g.6703936G>T	GRCh38
NC_000017.10:g.6607255G>T , CM000679.1:g.6607255G>T	GRCh37
NC_000017.9:g.6547979G>T	NCBI36
NG_034220.1:g.14486C>A , LRG_1020:g.14486C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.489C>A MANE Select	ENSP00000406220.2:p.Ser163Arg
ENST00000293800.10:c.438C>A	ENSP00000293800.6:p.Ser146Arg
ENST00000381074.8:c.360C>A	ENSP00000370464.4:p.Ser120Arg
ENST00000433363.6:c.489C>A	ENSP00000406220.2:p.Ser163Arg
ENST00000572094.1:c.*239C>A	ENSP00000461495.1:n.*239C>A
ENST00000572352.5:c.378C>A	ENSP00000461622.1:p.Ser126Arg
ENST00000573648.5:c.489C>A	ENSP00000459372.1:p.Ser163Arg
ENST00000574824.5:n.1622C>A
ENST00000576323.1:n.519C>A
NM_001143838.2:c.489C>A	NP_001137310.1:p.Ser163Arg
NM_001284509.1:c.438C>A	NP_001271438.1:p.Ser146Arg
NM_001284510.1:c.360C>A	NP_001271439.1:p.Ser120Arg
NM_177550.4:c.489C>A , LRG_1020t1:c.489C>A	NP_808218.1:p.Ser163Arg
XM_006721504.2:c.378C>A	XP_006721567.1:p.Ser126Arg
XM_011523795.1:c.489C>A	XP_011522097.1:p.Ser163Arg
XM_011523795.3:c.489C>A	XP_011522097.1:p.Ser163Arg
NM_001143838.3:c.489C>A	NP_001137310.1:p.Ser163Arg
NM_001284509.2:c.438C>A	NP_001271438.1:p.Ser146Arg
NM_001284510.2:c.360C>A	NP_001271439.1:p.Ser120Arg
NM_177550.5:c.489C>A MANE Select	NP_808218.1:p.Ser163Arg