Canonical Allele Identifier: CA397750253

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1501356
• ClinVar RCV Id: RCV002042791
• dbSNP Id: rs771925824
• MyVariant Identifiers: chr17:g.6607362A>G (hg19) ; chr17:g.6704043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704043A>G , CM000679.2:g.6704043A>G	GRCh38
NC_000017.10:g.6607362A>G , CM000679.1:g.6607362A>G	GRCh37
NC_000017.9:g.6548086A>G	NCBI36
NG_034220.1:g.14379T>C , LRG_1020:g.14379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.382T>C MANE Select	ENSP00000406220.2:p.Phe128Leu
ENST00000293800.10:c.369-38T>C	ENSP00000293800.6:n.369-38T>C
ENST00000381074.8:c.253T>C	ENSP00000370464.4:p.Phe85Leu
ENST00000433363.6:c.382T>C	ENSP00000406220.2:p.Phe128Leu
ENST00000572094.1:c.*132T>C	ENSP00000461495.1:n.*132T>C
ENST00000572352.5:c.271T>C	ENSP00000461622.1:p.Phe91Leu
ENST00000573648.5:c.382T>C	ENSP00000459372.1:p.Phe128Leu
ENST00000574824.5:n.1515T>C
ENST00000575230.1:c.*228T>C	ENSP00000460903.1:n.*228T>C
ENST00000576323.1:n.412T>C
NM_001143838.2:c.382T>C	NP_001137310.1:p.Phe128Leu
NM_001284509.1:c.369-38T>C	NP_001271438.1:n.369-38T>C
NM_001284510.1:c.253T>C	NP_001271439.1:p.Phe85Leu
NM_177550.4:c.382T>C , LRG_1020t1:c.382T>C	NP_808218.1:p.Phe128Leu
XM_006721504.2:c.271T>C	XP_006721567.1:p.Phe91Leu
XM_011523795.1:c.382T>C	XP_011522097.1:p.Phe128Leu
XM_011523795.3:c.382T>C	XP_011522097.1:p.Phe128Leu
NM_001143838.3:c.382T>C	NP_001137310.1:p.Phe128Leu
NM_001284509.2:c.369-38T>C	NP_001271438.1:n.369-38T>C
NM_001284510.2:c.253T>C	NP_001271439.1:p.Phe85Leu
NM_177550.5:c.382T>C MANE Select	NP_808218.1:p.Phe128Leu