Canonical Allele Identifier: CA9891690

Gene: SLC13A3

Linked Data

• ClinVar Variation Id: 2190887
• ClinVar RCV Id: RCV002628301
• dbSNP Id: rs755645897
• ExAC: 20:45242271 G / A
• gnomAD v2: 20-45242271-G-A
• gnomAD v3: 20-46613632-G-A
• gnomAD v4: 20-46613632-G-A
• MyVariant Identifiers: chr20:g.45242271G>A (hg19) ; chr20:g.46613632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46613632G>A , CM000682.2:g.46613632G>A	GRCh38
NC_000020.10:g.45242271G>A , CM000682.1:g.45242271G>A	GRCh37
NC_000020.9:g.44675678G>A	NCBI36
NG_047182.1:g.75854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279027.9:c.205C>T MANE Select	ENSP00000279027.4:p.Leu69Phe
ENST00000279027.8:c.205C>T	ENSP00000279027.4:p.Leu69Phe
ENST00000290317.9:c.64C>T	ENSP00000290317.5:p.Leu22Phe
ENST00000372121.5:c.64C>T	ENSP00000361193.2:p.Leu22Phe
ENST00000413164.6:c.205C>T	ENSP00000415852.2:p.Leu69Phe
ENST00000417157.2:c.64C>T	ENSP00000397955.2:p.Leu22Phe
ENST00000420568.5:c.94C>T	ENSP00000395095.1:p.Leu32Phe
ENST00000468915.5:c.64C>T	ENSP00000417784.1:p.Leu22Phe
ENST00000472148.5:c.64C>T	ENSP00000420177.1:p.Leu22Phe
ENST00000495082.5:c.64C>T	ENSP00000419621.1:p.Leu22Phe
NM_001011554.2:c.64C>T	NP_001011554.1:p.Leu22Phe
NM_001193339.1:c.205C>T	NP_001180268.1:p.Leu69Phe
NM_001193340.1:c.64C>T	NP_001180269.1:p.Leu22Phe
NM_001193342.1:c.-10-80C>T	NP_001180271.1:n.-10-80C>T
NM_022829.5:c.205C>T	NP_073740.2:p.Leu69Phe
NM_022829.6:c.205C>T MANE Select	NP_073740.2:p.Leu69Phe
NM_001011554.3:c.64C>T	NP_001011554.1:p.Leu22Phe
NM_001193339.2:c.205C>T	NP_001180268.1:p.Leu69Phe
NM_001193340.2:c.64C>T	NP_001180269.1:p.Leu22Phe
NM_001193342.2:c.-10-80C>T	NP_001180271.1:n.-10-80C>T