Canonical Allele Identifier: CA8331719

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 380898
• ClinVar RCV Id: RCV000431192 ; RCV000546254 ; RCV001532298 ; RCV002313057
• dbSNP Id: rs72836208
• ExAC: 17:6607318 C / T
• gnomAD v2: 17-6607318-C-T
• gnomAD v3: 17-6703999-C-T
• gnomAD v4: 17-6703999-C-T
• MyVariant Identifiers: chr17:g.6607318C>T (hg19) ; chr17:g.6703999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703999C>T , CM000679.2:g.6703999C>T	GRCh38
NC_000017.10:g.6607318C>T , CM000679.1:g.6607318C>T	GRCh37
NC_000017.9:g.6548042C>T	NCBI36
NG_034220.1:g.14423G>A , LRG_1020:g.14423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.426G>A MANE Select	ENSP00000406220.2:p.Thr142=
ENST00000293800.10:c.375G>A	ENSP00000293800.6:p.Thr125=
ENST00000381074.8:c.297G>A	ENSP00000370464.4:p.Thr99=
ENST00000433363.6:c.426G>A	ENSP00000406220.2:p.Thr142=
ENST00000572094.1:c.*176G>A	ENSP00000461495.1:n.*176G>A
ENST00000572352.5:c.315G>A	ENSP00000461622.1:p.Thr105=
ENST00000573648.5:c.426G>A	ENSP00000459372.1:p.Thr142=
ENST00000574824.5:n.1559G>A
ENST00000576323.1:n.456G>A
NM_001143838.2:c.426G>A	NP_001137310.1:p.Thr142=
NM_001284509.1:c.375G>A	NP_001271438.1:p.Thr125=
NM_001284510.1:c.297G>A	NP_001271439.1:p.Thr99=
NM_177550.4:c.426G>A , LRG_1020t1:c.426G>A	NP_808218.1:p.Thr142=
XM_006721504.2:c.315G>A	XP_006721567.1:p.Thr105=
XM_011523795.1:c.426G>A	XP_011522097.1:p.Thr142=
XM_011523795.3:c.426G>A	XP_011522097.1:p.Thr142=
NM_001143838.3:c.426G>A	NP_001137310.1:p.Thr142=
NM_001284509.2:c.375G>A	NP_001271438.1:p.Thr125=
NM_001284510.2:c.297G>A	NP_001271439.1:p.Thr99=
NM_177550.5:c.426G>A MANE Select	NP_808218.1:p.Thr142=