Canonical Allele Identifier: CA213347

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 218173
• ClinVar RCV Id: RCV000202397 ; RCV003226911
• dbSNP Id: rs761917087
• ExAC: 17:6607319 G / A
• gnomAD v2: 17-6607319-G-A
• gnomAD v3: 17-6704000-G-A
• gnomAD v4: 17-6704000-G-A
• MyVariant Identifiers: chr17:g.6607319G>A (hg19) ; chr17:g.6704000G>A (hg38)
• PubMed: PMID:26384929

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704000G>A , CM000679.2:g.6704000G>A	GRCh38
NC_000017.10:g.6607319G>A , CM000679.1:g.6607319G>A	GRCh37
NC_000017.9:g.6548043G>A	NCBI36
NG_034220.1:g.14422C>T , LRG_1020:g.14422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.425C>T MANE Select	ENSP00000406220.2:p.Thr142Met
ENST00000293800.10:c.374C>T	ENSP00000293800.6:p.Thr125Met
ENST00000381074.8:c.296C>T	ENSP00000370464.4:p.Thr99Met
ENST00000433363.6:c.425C>T	ENSP00000406220.2:p.Thr142Met
ENST00000572094.1:c.*175C>T	ENSP00000461495.1:n.*175C>T
ENST00000572352.5:c.314C>T	ENSP00000461622.1:p.Thr105Met
ENST00000573648.5:c.425C>T	ENSP00000459372.1:p.Thr142Met
ENST00000574824.5:n.1558C>T
ENST00000576323.1:n.455C>T
NM_001143838.2:c.425C>T	NP_001137310.1:p.Thr142Met
NM_001284509.1:c.374C>T	NP_001271438.1:p.Thr125Met
NM_001284510.1:c.296C>T	NP_001271439.1:p.Thr99Met
NM_177550.4:c.425C>T , LRG_1020t1:c.425C>T	NP_808218.1:p.Thr142Met
XM_006721504.2:c.314C>T	XP_006721567.1:p.Thr105Met
XM_011523795.1:c.425C>T	XP_011522097.1:p.Thr142Met
XM_011523795.3:c.425C>T	XP_011522097.1:p.Thr142Met
NM_001143838.3:c.425C>T	NP_001137310.1:p.Thr142Met
NM_001284509.2:c.374C>T	NP_001271438.1:p.Thr125Met
NM_001284510.2:c.296C>T	NP_001271439.1:p.Thr99Met
NM_177550.5:c.425C>T MANE Select	NP_808218.1:p.Thr142Met