Canonical Allele Identifier: CA8331864

Gene: SLC13A5

Linked Data

• dbSNP Id: rs368620304
• ExAC: 17:6610459 T / C
• gnomAD v2: 17-6610459-T-C
• gnomAD v3: 17-6707140-T-C
• gnomAD v4: 17-6707140-T-C
• MyVariant Identifiers: chr17:g.6610459T>C (hg19) ; chr17:g.6707140T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6707140T>C , CM000679.2:g.6707140T>C	GRCh38
NC_000017.10:g.6610459T>C , CM000679.1:g.6610459T>C	GRCh37
NC_000017.9:g.6551183T>C	NCBI36
NG_034220.1:g.11282A>G , LRG_1020:g.11282A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.119A>G MANE Select	ENSP00000406220.2:p.Tyr40Cys
ENST00000293800.10:c.119A>G	ENSP00000293800.6:p.Tyr40Cys
ENST00000381074.8:c.103-362A>G	ENSP00000370464.4:n.103-362A>G
ENST00000433363.6:c.119A>G	ENSP00000406220.2:p.Tyr40Cys
ENST00000572094.1:c.119A>G	ENSP00000461495.1:p.Tyr40Cys
ENST00000572352.5:c.103-95A>G	ENSP00000461622.1:n.103-95A>G
ENST00000573648.5:c.119A>G	ENSP00000459372.1:p.Tyr40Cys
ENST00000575230.1:c.119A>G	ENSP00000460903.1:p.Tyr40Cys
ENST00000576323.1:n.149A>G
NM_001143838.2:c.119A>G	NP_001137310.1:p.Tyr40Cys
NM_001284509.1:c.119A>G	NP_001271438.1:p.Tyr40Cys
NM_001284510.1:c.103-362A>G	NP_001271439.1:n.103-362A>G
NM_177550.4:c.119A>G , LRG_1020t1:c.119A>G	NP_808218.1:p.Tyr40Cys
XM_006721504.2:c.103-95A>G	XP_006721567.1:n.103-95A>G
XM_011523795.1:c.119A>G	XP_011522097.1:p.Tyr40Cys
XM_011523795.3:c.119A>G	XP_011522097.1:p.Tyr40Cys
NM_001143838.3:c.119A>G	NP_001137310.1:p.Tyr40Cys
NM_001284509.2:c.119A>G	NP_001271438.1:p.Tyr40Cys
NM_001284510.2:c.103-362A>G	NP_001271439.1:n.103-362A>G
NM_177550.5:c.119A>G MANE Select	NP_808218.1:p.Tyr40Cys