Canonical Allele Identifier: CA8331653

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 452996
• ClinVar RCV Id: RCV000522083 ; RCV000560610
• dbSNP Id: rs182042247
• ExAC: 17:6606331 G / A
• gnomAD v2: 17-6606331-G-A
• gnomAD v3: 17-6703012-G-A
• gnomAD v4: 17-6703012-G-A
• MyVariant Identifiers: chr17:g.6606331G>A (hg19) ; chr17:g.6703012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703012G>A , CM000679.2:g.6703012G>A	GRCh38
NC_000017.10:g.6606331G>A , CM000679.1:g.6606331G>A	GRCh37
NC_000017.9:g.6547055G>A	NCBI36
NG_034220.1:g.15410C>T , LRG_1020:g.15410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.674C>T MANE Select	ENSP00000406220.2:p.Thr225Ile
ENST00000293800.10:c.623C>T	ENSP00000293800.6:p.Thr208Ile
ENST00000381074.8:c.545C>T	ENSP00000370464.4:p.Thr182Ile
ENST00000433363.6:c.674C>T	ENSP00000406220.2:p.Thr225Ile
ENST00000572094.1:c.*424C>T	ENSP00000461495.1:n.*424C>T
ENST00000573648.5:c.674C>T	ENSP00000459372.1:p.Thr225Ile
ENST00000574824.5:n.1807C>T
NM_001143838.2:c.674C>T	NP_001137310.1:p.Thr225Ile
NM_001284509.1:c.623C>T	NP_001271438.1:p.Thr208Ile
NM_001284510.1:c.545C>T	NP_001271439.1:p.Thr182Ile
NM_177550.4:c.674C>T , LRG_1020t1:c.674C>T	NP_808218.1:p.Thr225Ile
XM_006721504.2:c.563C>T	XP_006721567.1:p.Thr188Ile
XM_011523795.1:c.674C>T	XP_011522097.1:p.Thr225Ile
XM_011523795.3:c.674C>T	XP_011522097.1:p.Thr225Ile
NM_001143838.3:c.674C>T	NP_001137310.1:p.Thr225Ile
NM_001284509.2:c.623C>T	NP_001271438.1:p.Thr208Ile
NM_001284510.2:c.545C>T	NP_001271439.1:p.Thr182Ile
NM_177550.5:c.674C>T MANE Select	NP_808218.1:p.Thr225Ile