Canonical Allele Identifier: CA397750006

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1043572
• ClinVar RCV Id: RCV001347701
• dbSNP Id: rs1415995914
• gnomAD v2: 17-6607248-T-C
• gnomAD v3: 17-6703929-T-C
• gnomAD v4: 17-6703929-T-C
• MyVariant Identifiers: chr17:g.6607248T>C (hg19) ; chr17:g.6703929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703929T>C , CM000679.2:g.6703929T>C	GRCh38
NC_000017.10:g.6607248T>C , CM000679.1:g.6607248T>C	GRCh37
NC_000017.9:g.6547972T>C	NCBI36
NG_034220.1:g.14493A>G , LRG_1020:g.14493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.496A>G MANE Select	ENSP00000406220.2:p.Thr166Ala
ENST00000293800.10:c.445A>G	ENSP00000293800.6:p.Thr149Ala
ENST00000381074.8:c.367A>G	ENSP00000370464.4:p.Thr123Ala
ENST00000433363.6:c.496A>G	ENSP00000406220.2:p.Thr166Ala
ENST00000572094.1:c.*246A>G	ENSP00000461495.1:n.*246A>G
ENST00000572352.5:c.385A>G	ENSP00000461622.1:p.Thr129Ala
ENST00000573648.5:c.496A>G	ENSP00000459372.1:p.Thr166Ala
ENST00000574824.5:n.1629A>G
ENST00000576323.1:n.526A>G
NM_001143838.2:c.496A>G	NP_001137310.1:p.Thr166Ala
NM_001284509.1:c.445A>G	NP_001271438.1:p.Thr149Ala
NM_001284510.1:c.367A>G	NP_001271439.1:p.Thr123Ala
NM_177550.4:c.496A>G , LRG_1020t1:c.496A>G	NP_808218.1:p.Thr166Ala
XM_006721504.2:c.385A>G	XP_006721567.1:p.Thr129Ala
XM_011523795.1:c.496A>G	XP_011522097.1:p.Thr166Ala
XM_011523795.3:c.496A>G	XP_011522097.1:p.Thr166Ala
NM_001143838.3:c.496A>G	NP_001137310.1:p.Thr166Ala
NM_001284509.2:c.445A>G	NP_001271438.1:p.Thr149Ala
NM_001284510.2:c.367A>G	NP_001271439.1:p.Thr123Ala
NM_177550.5:c.496A>G MANE Select	NP_808218.1:p.Thr166Ala