Canonical Allele Identifier: CA9891689

Gene: SLC13A3

Linked Data

• ClinVar Variation Id: 1169472
• ClinVar RCV Id: RCV001520780 ; RCV001807411 ; RCV003980597
• dbSNP Id: rs2273024
• ExAC: 20:45242269 G / C
• gnomAD v2: 20-45242269-G-C
• gnomAD v3: 20-46613630-G-C
• gnomAD v4: 20-46613630-G-C
• MyVariant Identifiers: chr20:g.45242269G>C (hg19) ; chr20:g.46613630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46613630G>C , CM000682.2:g.46613630G>C	GRCh38
NC_000020.10:g.45242269G>C , CM000682.1:g.45242269G>C	GRCh37
NC_000020.9:g.44675676G>C	NCBI36
NG_047182.1:g.75856C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279027.9:c.207C>G MANE Select	ENSP00000279027.4:p.Leu69=
ENST00000279027.8:c.207C>G	ENSP00000279027.4:p.Leu69=
ENST00000290317.9:c.66C>G	ENSP00000290317.5:p.Leu22=
ENST00000372121.5:c.66C>G	ENSP00000361193.2:p.Leu22=
ENST00000413164.6:c.207C>G	ENSP00000415852.2:p.Leu69=
ENST00000417157.2:c.66C>G	ENSP00000397955.2:p.Leu22=
ENST00000420568.5:c.96C>G	ENSP00000395095.1:p.Leu32=
ENST00000468915.5:c.66C>G	ENSP00000417784.1:p.Leu22=
ENST00000472148.5:c.66C>G	ENSP00000420177.1:p.Leu22=
ENST00000495082.5:c.66C>G	ENSP00000419621.1:p.Leu22=
NM_001011554.2:c.66C>G	NP_001011554.1:p.Leu22=
NM_001193339.1:c.207C>G	NP_001180268.1:p.Leu69=
NM_001193340.1:c.66C>G	NP_001180269.1:p.Leu22=
NM_001193342.1:c.-10-78C>G	NP_001180271.1:n.-10-78C>G
NM_022829.5:c.207C>G	NP_073740.2:p.Leu69=
NM_022829.6:c.207C>G MANE Select	NP_073740.2:p.Leu69=
NM_001011554.3:c.66C>G	NP_001011554.1:p.Leu22=
NM_001193339.2:c.207C>G	NP_001180268.1:p.Leu69=
NM_001193340.2:c.66C>G	NP_001180269.1:p.Leu22=
NM_001193342.2:c.-10-78C>G	NP_001180271.1:n.-10-78C>G