Canonical Allele Identifier: CA397750173

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6607326T>C (hg19) ; chr17:g.6704007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704007T>C , CM000679.2:g.6704007T>C	GRCh38
NC_000017.10:g.6607326T>C , CM000679.1:g.6607326T>C	GRCh37
NC_000017.9:g.6548050T>C	NCBI36
NG_034220.1:g.14415A>G , LRG_1020:g.14415A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.418A>G MANE Select	ENSP00000406220.2:p.Ser140Gly
ENST00000293800.10:c.369-2A>G	ENSP00000293800.6:n.369-2A>G
ENST00000381074.8:c.289A>G	ENSP00000370464.4:p.Ser97Gly
ENST00000433363.6:c.418A>G	ENSP00000406220.2:p.Ser140Gly
ENST00000572094.1:c.*168A>G	ENSP00000461495.1:n.*168A>G
ENST00000572352.5:c.307A>G	ENSP00000461622.1:p.Ser103Gly
ENST00000573648.5:c.418A>G	ENSP00000459372.1:p.Ser140Gly
ENST00000574824.5:n.1551A>G
ENST00000576323.1:n.448A>G
NM_001143838.2:c.418A>G	NP_001137310.1:p.Ser140Gly
NM_001284509.1:c.369-2A>G	NP_001271438.1:n.369-2A>G
NM_001284510.1:c.289A>G	NP_001271439.1:p.Ser97Gly
NM_177550.4:c.418A>G , LRG_1020t1:c.418A>G	NP_808218.1:p.Ser140Gly
XM_006721504.2:c.307A>G	XP_006721567.1:p.Ser103Gly
XM_011523795.1:c.418A>G	XP_011522097.1:p.Ser140Gly
XM_011523795.3:c.418A>G	XP_011522097.1:p.Ser140Gly
NM_001143838.3:c.418A>G	NP_001137310.1:p.Ser140Gly
NM_001284509.2:c.369-2A>G	NP_001271438.1:n.369-2A>G
NM_001284510.2:c.289A>G	NP_001271439.1:p.Ser97Gly
NM_177550.5:c.418A>G MANE Select	NP_808218.1:p.Ser140Gly