Canonical Allele Identifier: CA8331720

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 2630802
• ClinVar RCV Id: RCV003404178
• dbSNP Id: rs755331183
• ExAC: 17:6607320 T / C
• gnomAD v2: 17-6607320-T-C
• gnomAD v4: 17-6704001-T-C
• MyVariant Identifiers: chr17:g.6607320T>C (hg19) ; chr17:g.6704001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704001T>C , CM000679.2:g.6704001T>C	GRCh38
NC_000017.10:g.6607320T>C , CM000679.1:g.6607320T>C	GRCh37
NC_000017.9:g.6548044T>C	NCBI36
NG_034220.1:g.14421A>G , LRG_1020:g.14421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.424A>G MANE Select	ENSP00000406220.2:p.Thr142Ala
ENST00000293800.10:c.373A>G	ENSP00000293800.6:p.Thr125Ala
ENST00000381074.8:c.295A>G	ENSP00000370464.4:p.Thr99Ala
ENST00000433363.6:c.424A>G	ENSP00000406220.2:p.Thr142Ala
ENST00000572094.1:c.*174A>G	ENSP00000461495.1:n.*174A>G
ENST00000572352.5:c.313A>G	ENSP00000461622.1:p.Thr105Ala
ENST00000573648.5:c.424A>G	ENSP00000459372.1:p.Thr142Ala
ENST00000574824.5:n.1557A>G
ENST00000576323.1:n.454A>G
NM_001143838.2:c.424A>G	NP_001137310.1:p.Thr142Ala
NM_001284509.1:c.373A>G	NP_001271438.1:p.Thr125Ala
NM_001284510.1:c.295A>G	NP_001271439.1:p.Thr99Ala
NM_177550.4:c.424A>G , LRG_1020t1:c.424A>G	NP_808218.1:p.Thr142Ala
XM_006721504.2:c.313A>G	XP_006721567.1:p.Thr105Ala
XM_011523795.1:c.424A>G	XP_011522097.1:p.Thr142Ala
XM_011523795.3:c.424A>G	XP_011522097.1:p.Thr142Ala
NM_001143838.3:c.424A>G	NP_001137310.1:p.Thr142Ala
NM_001284509.2:c.373A>G	NP_001271438.1:p.Thr125Ala
NM_001284510.2:c.295A>G	NP_001271439.1:p.Thr99Ala
NM_177550.5:c.424A>G MANE Select	NP_808218.1:p.Thr142Ala