Canonical Allele Identifier: CA409269776

Gene: SLC13A3

Linked Data

• MyVariant Identifiers: chr20:g.45242196G>T (hg19) ; chr20:g.46613557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46613557G>T , CM000682.2:g.46613557G>T	GRCh38
NC_000020.10:g.45242196G>T , CM000682.1:g.45242196G>T	GRCh37
NC_000020.9:g.44675603G>T	NCBI36
NG_047182.1:g.75929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279027.9:c.280C>A MANE Select	ENSP00000279027.4:p.Leu94Ile
ENST00000279027.8:c.280C>A	ENSP00000279027.4:p.Leu94Ile
ENST00000290317.9:c.139C>A	ENSP00000290317.5:p.Leu47Ile
ENST00000372121.5:c.139C>A	ENSP00000361193.2:p.Leu47Ile
ENST00000413164.6:c.280C>A	ENSP00000415852.2:p.Leu94Ile
ENST00000417157.2:c.139C>A	ENSP00000397955.2:p.Leu47Ile
ENST00000420568.5:c.169C>A	ENSP00000395095.1:p.Leu57Ile
ENST00000468915.5:c.139C>A	ENSP00000417784.1:p.Leu47Ile
ENST00000472148.5:c.139C>A	ENSP00000420177.1:p.Leu47Ile
ENST00000495082.5:c.139C>A	ENSP00000419621.1:p.Leu47Ile
NM_001011554.2:c.139C>A	NP_001011554.1:p.Leu47Ile
NM_001193339.1:c.280C>A	NP_001180268.1:p.Leu94Ile
NM_001193340.1:c.139C>A	NP_001180269.1:p.Leu47Ile
NM_001193342.1:c.-10-5C>A	NP_001180271.1:n.-10-5C>A
NM_022829.5:c.280C>A	NP_073740.2:p.Leu94Ile
NM_022829.6:c.280C>A MANE Select	NP_073740.2:p.Leu94Ile
NM_001011554.3:c.139C>A	NP_001011554.1:p.Leu47Ile
NM_001193339.2:c.280C>A	NP_001180268.1:p.Leu94Ile
NM_001193340.2:c.139C>A	NP_001180269.1:p.Leu47Ile
NM_001193342.2:c.-10-5C>A	NP_001180271.1:n.-10-5C>A