Canonical Allele Identifier: CA510772570
Gene: SLC13A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.45242281C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46613642C>G , CM000682.2:g.46613642C>G GRCh38
NC_000020.10:g.45242281C>G , CM000682.1:g.45242281C>G GRCh37
NC_000020.9:g.44675688C>G NCBI36
NG_047182.1:g.75844G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279027.9:c.195G>C MANE Select ENSP00000279027.4:p.Leu65=
ENST00000279027.8:c.195G>C ENSP00000279027.4:p.Leu65=
ENST00000290317.9:c.54G>C ENSP00000290317.5:p.Leu18=
ENST00000372121.5:c.54G>C ENSP00000361193.2:p.Leu18=
ENST00000413164.6:c.195G>C ENSP00000415852.2:p.Leu65=
ENST00000417157.2:c.54G>C ENSP00000397955.2:p.Leu18=
ENST00000420568.5:c.84G>C ENSP00000395095.1:p.Leu28=
ENST00000468915.5:c.54G>C ENSP00000417784.1:p.Leu18=
ENST00000472148.5:c.54G>C ENSP00000420177.1:p.Leu18=
ENST00000495082.5:c.54G>C ENSP00000419621.1:p.Leu18=
NM_001011554.2:c.54G>C NP_001011554.1:p.Leu18=
NM_001193339.1:c.195G>C NP_001180268.1:p.Leu65=
NM_001193340.1:c.54G>C NP_001180269.1:p.Leu18=
NM_001193342.1:c.-10-90G>C NP_001180271.1:n.-10-90G>C
NM_022829.5:c.195G>C NP_073740.2:p.Leu65=
NM_022829.6:c.195G>C MANE Select NP_073740.2:p.Leu65=
NM_001011554.3:c.54G>C NP_001011554.1:p.Leu18=
NM_001193339.2:c.195G>C NP_001180268.1:p.Leu65=
NM_001193340.2:c.54G>C NP_001180269.1:p.Leu18=
NM_001193342.2:c.-10-90G>C NP_001180271.1:n.-10-90G>C