Canonical Allele Identifier: CA624676813

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 2195190
• ClinVar RCV Id: RCV002647610
• dbSNP Id: rs1230045010
• gnomAD v2: 17-6607394-G-C
• gnomAD v4: 17-6704075-G-C
• MyVariant Identifiers: chr17:g.6607394G>C (hg19) ; chr17:g.6704075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704075G>C , CM000679.2:g.6704075G>C	GRCh38
NC_000017.10:g.6607394G>C , CM000679.1:g.6607394G>C	GRCh37
NC_000017.9:g.6548118G>C	NCBI36
NG_034220.1:g.14347C>G , LRG_1020:g.14347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.369-19C>G MANE Select	ENSP00000406220.2:n.369-19C>G
ENST00000293800.10:c.369-70C>G	ENSP00000293800.6:n.369-70C>G
ENST00000381074.8:c.240-19C>G	ENSP00000370464.4:n.240-19C>G
ENST00000433363.6:c.369-19C>G	ENSP00000406220.2:n.369-19C>G
ENST00000572094.1:c.*119-19C>G	ENSP00000461495.1:n.*119-19C>G
ENST00000572352.5:c.258-19C>G	ENSP00000461622.1:n.258-19C>G
ENST00000573648.5:c.369-19C>G	ENSP00000459372.1:n.369-19C>G
ENST00000574824.5:n.1483C>G
ENST00000575230.1:c.*215-19C>G	ENSP00000460903.1:n.*215-19C>G
ENST00000576323.1:n.399-19C>G
NM_001143838.2:c.369-19C>G	NP_001137310.1:n.369-19C>G
NM_001284509.1:c.369-70C>G	NP_001271438.1:n.369-70C>G
NM_001284510.1:c.240-19C>G	NP_001271439.1:n.240-19C>G
NM_177550.4:c.369-19C>G , LRG_1020t1:c.369-19C>G	NP_808218.1:n.369-19C>G
XM_006721504.2:c.258-19C>G	XP_006721567.1:n.258-19C>G
XM_011523795.1:c.369-19C>G	XP_011522097.1:n.369-19C>G
XM_011523795.3:c.369-19C>G	XP_011522097.1:n.369-19C>G
NM_001143838.3:c.369-19C>G	NP_001137310.1:n.369-19C>G
NM_001284509.2:c.369-70C>G	NP_001271438.1:n.369-70C>G
NM_001284510.2:c.240-19C>G	NP_001271439.1:n.240-19C>G
NM_177550.5:c.369-19C>G MANE Select	NP_808218.1:n.369-19C>G