Canonical Allele Identifier: CA8331718

Gene: SLC13A5

Linked Data

• dbSNP Id: rs758797129
• ExAC: 17:6607311 T / C
• gnomAD v4: 17-6703992-T-C
• MyVariant Identifiers: chr17:g.6607311T>C (hg19) ; chr17:g.6703992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703992T>C , CM000679.2:g.6703992T>C	GRCh38
NC_000017.10:g.6607311T>C , CM000679.1:g.6607311T>C	GRCh37
NC_000017.9:g.6548035T>C	NCBI36
NG_034220.1:g.14430A>G , LRG_1020:g.14430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.433A>G MANE Select	ENSP00000406220.2:p.Thr145Ala
ENST00000293800.10:c.382A>G	ENSP00000293800.6:p.Thr128Ala
ENST00000381074.8:c.304A>G	ENSP00000370464.4:p.Thr102Ala
ENST00000433363.6:c.433A>G	ENSP00000406220.2:p.Thr145Ala
ENST00000572094.1:c.*183A>G	ENSP00000461495.1:n.*183A>G
ENST00000572352.5:c.322A>G	ENSP00000461622.1:p.Thr108Ala
ENST00000573648.5:c.433A>G	ENSP00000459372.1:p.Thr145Ala
ENST00000574824.5:n.1566A>G
ENST00000576323.1:n.463A>G
NM_001143838.2:c.433A>G	NP_001137310.1:p.Thr145Ala
NM_001284509.1:c.382A>G	NP_001271438.1:p.Thr128Ala
NM_001284510.1:c.304A>G	NP_001271439.1:p.Thr102Ala
NM_177550.4:c.433A>G , LRG_1020t1:c.433A>G	NP_808218.1:p.Thr145Ala
XM_006721504.2:c.322A>G	XP_006721567.1:p.Thr108Ala
XM_011523795.1:c.433A>G	XP_011522097.1:p.Thr145Ala
XM_011523795.3:c.433A>G	XP_011522097.1:p.Thr145Ala
NM_001143838.3:c.433A>G	NP_001137310.1:p.Thr145Ala
NM_001284509.2:c.382A>G	NP_001271438.1:p.Thr128Ala
NM_001284510.2:c.304A>G	NP_001271439.1:p.Thr102Ala
NM_177550.5:c.433A>G MANE Select	NP_808218.1:p.Thr145Ala