Canonical Allele Identifier: CA397750283

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 976222
• ClinVar RCV Id: RCV001253450
• dbSNP Id: rs1973796030
• MyVariant Identifiers: chr17:g.6607377T>C (hg19) ; chr17:g.6704058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704058T>C , CM000679.2:g.6704058T>C	GRCh38
NC_000017.10:g.6607377T>C , CM000679.1:g.6607377T>C	GRCh37
NC_000017.9:g.6548101T>C	NCBI36
NG_034220.1:g.14364A>G , LRG_1020:g.14364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.369-2A>G MANE Select	ENSP00000406220.2:n.369-2A>G
ENST00000293800.10:c.369-53A>G	ENSP00000293800.6:n.369-53A>G
ENST00000381074.8:c.240-2A>G	ENSP00000370464.4:n.240-2A>G
ENST00000433363.6:c.369-2A>G	ENSP00000406220.2:n.369-2A>G
ENST00000572094.1:c.*119-2A>G	ENSP00000461495.1:n.*119-2A>G
ENST00000572352.5:c.258-2A>G	ENSP00000461622.1:n.258-2A>G
ENST00000573648.5:c.369-2A>G	ENSP00000459372.1:n.369-2A>G
ENST00000574824.5:n.1500A>G
ENST00000575230.1:c.*215-2A>G	ENSP00000460903.1:n.*215-2A>G
ENST00000576323.1:n.399-2A>G
NM_001143838.2:c.369-2A>G	NP_001137310.1:n.369-2A>G
NM_001284509.1:c.369-53A>G	NP_001271438.1:n.369-53A>G
NM_001284510.1:c.240-2A>G	NP_001271439.1:n.240-2A>G
NM_177550.4:c.369-2A>G , LRG_1020t1:c.369-2A>G	NP_808218.1:n.369-2A>G
XM_006721504.2:c.258-2A>G	XP_006721567.1:n.258-2A>G
XM_011523795.1:c.369-2A>G	XP_011522097.1:n.369-2A>G
XM_011523795.3:c.369-2A>G	XP_011522097.1:n.369-2A>G
NM_001143838.3:c.369-2A>G	NP_001137310.1:n.369-2A>G
NM_001284509.2:c.369-53A>G	NP_001271438.1:n.369-53A>G
NM_001284510.2:c.240-2A>G	NP_001271439.1:n.240-2A>G
NM_177550.5:c.369-2A>G MANE Select	NP_808218.1:n.369-2A>G