Canonical Allele Identifier: CA2697547400

Gene: SLC13A3

Linked Data

• ClinVar Variation Id: 2715478
• ClinVar RCV Id: RCV003553334

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46563570G>A , CM000682.2:g.46563570G>A	GRCh38
NC_000020.10:g.45192209G>A , CM000682.1:g.45192209G>A	GRCh37
NC_000020.9:g.44625616G>A	NCBI36
NG_047182.1:g.125916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279027.9:c.1495-19C>T MANE Select	ENSP00000279027.4:n.1495-19C>T
ENST00000279027.8:c.1495-19C>T	ENSP00000279027.4:n.1495-19C>T
ENST00000290317.9:c.1354-19C>T	ENSP00000290317.5:n.1354-19C>T
ENST00000413164.6:c.1345-19C>T	ENSP00000415852.2:n.1345-19C>T
ENST00000472148.5:c.1249-19C>T	ENSP00000420177.1:n.1249-19C>T
ENST00000495082.5:c.1354-19C>T	ENSP00000419621.1:n.1354-19C>T
NM_001011554.2:c.1354-19C>T	NP_001011554.1:n.1354-19C>T
NM_001193339.1:c.1345-19C>T	NP_001180268.1:n.1345-19C>T
NM_001193340.1:c.1249-19C>T	NP_001180269.1:n.1249-19C>T
NM_001193342.1:c.1201-19C>T	NP_001180271.1:n.1201-19C>T
NM_022829.5:c.1495-19C>T	NP_073740.2:n.1495-19C>T
NM_022829.6:c.1495-19C>T MANE Select	NP_073740.2:n.1495-19C>T
NM_001011554.3:c.1354-19C>T	NP_001011554.1:n.1354-19C>T
NM_001193339.2:c.1345-19C>T	NP_001180268.1:n.1345-19C>T
NM_001193340.2:c.1249-19C>T	NP_001180269.1:n.1249-19C>T
NM_001193342.2:c.1201-19C>T	NP_001180271.1:n.1201-19C>T