Canonical Allele Identifier: CA8331695

Gene: SLC13A5

Linked Data

• dbSNP Id: rs753368006
• ExAC: 17:6607221 T / C
• gnomAD v2: 17-6607221-T-C
• gnomAD v4: 17-6703902-T-C
• MyVariant Identifiers: chr17:g.6607221T>C (hg19) ; chr17:g.6703902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703902T>C , CM000679.2:g.6703902T>C	GRCh38
NC_000017.10:g.6607221T>C , CM000679.1:g.6607221T>C	GRCh37
NC_000017.9:g.6547945T>C	NCBI36
NG_034220.1:g.14520A>G , LRG_1020:g.14520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.523A>G MANE Select	ENSP00000406220.2:p.Lys175Glu
ENST00000293800.10:c.472A>G	ENSP00000293800.6:p.Lys158Glu
ENST00000381074.8:c.394A>G	ENSP00000370464.4:p.Lys132Glu
ENST00000433363.6:c.523A>G	ENSP00000406220.2:p.Lys175Glu
ENST00000572094.1:c.*273A>G	ENSP00000461495.1:n.*273A>G
ENST00000572352.5:c.412A>G	ENSP00000461622.1:p.Lys138Glu
ENST00000573648.5:c.523A>G	ENSP00000459372.1:p.Lys175Glu
ENST00000574824.5:n.1656A>G
ENST00000576323.1:n.553A>G
NM_001143838.2:c.523A>G	NP_001137310.1:p.Lys175Glu
NM_001284509.1:c.472A>G	NP_001271438.1:p.Lys158Glu
NM_001284510.1:c.394A>G	NP_001271439.1:p.Lys132Glu
NM_177550.4:c.523A>G , LRG_1020t1:c.523A>G	NP_808218.1:p.Lys175Glu
XM_006721504.2:c.412A>G	XP_006721567.1:p.Lys138Glu
XM_011523795.1:c.523A>G	XP_011522097.1:p.Lys175Glu
XM_011523795.3:c.523A>G	XP_011522097.1:p.Lys175Glu
NM_001143838.3:c.523A>G	NP_001137310.1:p.Lys175Glu
NM_001284509.2:c.472A>G	NP_001271438.1:p.Lys158Glu
NM_001284510.2:c.394A>G	NP_001271439.1:p.Lys132Glu
NM_177550.5:c.523A>G MANE Select	NP_808218.1:p.Lys175Glu