Canonical Allele Identifier: CA315749411

Gene: SLC13A3

Linked Data

• ClinVar Variation Id: 2891165
• ClinVar RCV Id: RCV003722839
• dbSNP Id: rs1027642189
• gnomAD v2: 20-45242282-A-C
• gnomAD v3: 20-46613643-A-C
• gnomAD v4: 20-46613643-A-C
• MyVariant Identifiers: chr20:g.45242282A>C (hg19) ; chr20:g.46613643A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46613643A>C , CM000682.2:g.46613643A>C	GRCh38
NC_000020.10:g.45242282A>C , CM000682.1:g.45242282A>C	GRCh37
NC_000020.9:g.44675689A>C	NCBI36
NG_047182.1:g.75843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279027.9:c.194T>G MANE Select	ENSP00000279027.4:p.Leu65Arg
ENST00000279027.8:c.194T>G	ENSP00000279027.4:p.Leu65Arg
ENST00000290317.9:c.53T>G	ENSP00000290317.5:p.Leu18Arg
ENST00000372121.5:c.53T>G	ENSP00000361193.2:p.Leu18Arg
ENST00000413164.6:c.194T>G	ENSP00000415852.2:p.Leu65Arg
ENST00000417157.2:c.53T>G	ENSP00000397955.2:p.Leu18Arg
ENST00000420568.5:c.83T>G	ENSP00000395095.1:p.Leu28Arg
ENST00000468915.5:c.53T>G	ENSP00000417784.1:p.Leu18Arg
ENST00000472148.5:c.53T>G	ENSP00000420177.1:p.Leu18Arg
ENST00000495082.5:c.53T>G	ENSP00000419621.1:p.Leu18Arg
NM_001011554.2:c.53T>G	NP_001011554.1:p.Leu18Arg
NM_001193339.1:c.194T>G	NP_001180268.1:p.Leu65Arg
NM_001193340.1:c.53T>G	NP_001180269.1:p.Leu18Arg
NM_001193342.1:c.-10-91T>G	NP_001180271.1:n.-10-91T>G
NM_022829.5:c.194T>G	NP_073740.2:p.Leu65Arg
NM_022829.6:c.194T>G MANE Select	NP_073740.2:p.Leu65Arg
NM_001011554.3:c.53T>G	NP_001011554.1:p.Leu18Arg
NM_001193339.2:c.194T>G	NP_001180268.1:p.Leu65Arg
NM_001193340.2:c.53T>G	NP_001180269.1:p.Leu18Arg
NM_001193342.2:c.-10-91T>G	NP_001180271.1:n.-10-91T>G