Canonical Allele Identifier: CA210665

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 140752
• ClinVar RCV Id: RCV000128860 ; RCV001311105 ; RCV002362772
• dbSNP Id: rs144332569
• ExAC: 17:6606350 C / T
• gnomAD v2: 17-6606350-C-T
• gnomAD v3: 17-6703031-C-T
• gnomAD v4: 17-6703031-C-T
• MyVariant Identifiers: chr17:g.6606350C>T (hg19) ; chr17:g.6703031C>T (hg38)
• PubMed: PMID:24995870 ; PMID:26384929

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703031C>T , CM000679.2:g.6703031C>T	GRCh38
NC_000017.10:g.6606350C>T , CM000679.1:g.6606350C>T	GRCh37
NC_000017.9:g.6547074C>T	NCBI36
NG_034220.1:g.15391G>A , LRG_1020:g.15391G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433363.7:c.655G>A MANE Select	ENSP00000406220.2:p.Gly219Arg
ENST00000293800.10:c.604G>A	ENSP00000293800.6:p.Gly202Arg
ENST00000381074.8:c.526G>A	ENSP00000370464.4:p.Gly176Arg
ENST00000433363.6:c.655G>A	ENSP00000406220.2:p.Gly219Arg
ENST00000572094.1:c.*405G>A	ENSP00000461495.1:n.*405G>A
ENST00000573648.5:c.655G>A	ENSP00000459372.1:p.Gly219Arg
ENST00000574824.5:n.1788G>A
NM_001143838.2:c.655G>A	NP_001137310.1:p.Gly219Arg
NM_001284509.1:c.604G>A	NP_001271438.1:p.Gly202Arg
NM_001284510.1:c.526G>A	NP_001271439.1:p.Gly176Arg
NM_177550.4:c.655G>A , LRG_1020t1:c.655G>A	NP_808218.1:p.Gly219Arg
XM_006721504.2:c.544G>A	XP_006721567.1:p.Gly182Arg
XM_011523795.1:c.655G>A	XP_011522097.1:p.Gly219Arg
XM_011523795.3:c.655G>A	XP_011522097.1:p.Gly219Arg
NM_001143838.3:c.655G>A	NP_001137310.1:p.Gly219Arg
NM_001284509.2:c.604G>A	NP_001271438.1:p.Gly202Arg
NM_001284510.2:c.526G>A	NP_001271439.1:p.Gly176Arg
NM_177550.5:c.655G>A MANE Select	NP_808218.1:p.Gly219Arg