Canonical Allele Identifier: CA14493706
Gene: SLC13A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 670097
ClinVar RCV Id: RCV000829228
dbSNP Id: rs218675
gnomAD v2: 17-6606976-G-T
gnomAD v3: 17-6703657-G-T
gnomAD v4: 17-6703657-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703657G>T , CM000679.2:g.6703657G>T GRCh38
NC_000017.10:g.6606976G>T , CM000679.1:g.6606976G>T GRCh37
NC_000017.9:g.6547700G>T NCBI36
NG_034220.1:g.14765C>A , LRG_1020:g.14765C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.547+221C>A MANE Select ENSP00000406220.2:n.547+221C>A
ENST00000293800.10:c.496+221C>A ENSP00000293800.6:n.496+221C>A
ENST00000381074.8:c.418+221C>A ENSP00000370464.4:n.418+221C>A
ENST00000433363.6:c.547+221C>A ENSP00000406220.2:n.547+221C>A
ENST00000572094.1:c.*297+221C>A ENSP00000461495.1:n.*297+221C>A
ENST00000572352.5:c.436+221C>A ENSP00000461622.1:n.436+221C>A
ENST00000573648.5:c.547+221C>A ENSP00000459372.1:n.547+221C>A
ENST00000574824.5:n.1680+221C>A
NM_001143838.2:c.547+221C>A NP_001137310.1:n.547+221C>A
NM_001284509.1:c.496+221C>A NP_001271438.1:n.496+221C>A
NM_001284510.1:c.418+221C>A NP_001271439.1:n.418+221C>A
NM_177550.4:c.547+221C>A , LRG_1020t1:c.547+221C>A NP_808218.1:n.547+221C>A
XM_006721504.2:c.436+221C>A XP_006721567.1:n.436+221C>A
XM_011523795.1:c.547+221C>A XP_011522097.1:n.547+221C>A
XM_011523795.3:c.547+221C>A XP_011522097.1:n.547+221C>A
NM_001143838.3:c.547+221C>A NP_001137310.1:n.547+221C>A
NM_001284509.2:c.496+221C>A NP_001271438.1:n.496+221C>A
NM_001284510.2:c.418+221C>A NP_001271439.1:n.418+221C>A
NM_177550.5:c.547+221C>A MANE Select NP_808218.1:n.547+221C>A