Canonical Allele Identifier: CA397748861
Gene: SLC13A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703018G>A , CM000679.2:g.6703018G>A GRCh38
NC_000017.10:g.6606337G>A , CM000679.1:g.6606337G>A GRCh37
NC_000017.9:g.6547061G>A NCBI36
NG_034220.1:g.15404C>T , LRG_1020:g.15404C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.668C>T MANE Select ENSP00000406220.2:p.Thr223Ile
ENST00000293800.10:c.617C>T ENSP00000293800.6:p.Thr206Ile
ENST00000381074.8:c.539C>T ENSP00000370464.4:p.Thr180Ile
ENST00000433363.6:c.668C>T ENSP00000406220.2:p.Thr223Ile
ENST00000572094.1:c.*418C>T ENSP00000461495.1:n.*418C>T
ENST00000573648.5:c.668C>T ENSP00000459372.1:p.Thr223Ile
ENST00000574824.5:n.1801C>T
NM_001143838.2:c.668C>T NP_001137310.1:p.Thr223Ile
NM_001284509.1:c.617C>T NP_001271438.1:p.Thr206Ile
NM_001284510.1:c.539C>T NP_001271439.1:p.Thr180Ile
NM_177550.4:c.668C>T , LRG_1020t1:c.668C>T NP_808218.1:p.Thr223Ile
XM_006721504.2:c.557C>T XP_006721567.1:p.Thr186Ile
XM_011523795.1:c.668C>T XP_011522097.1:p.Thr223Ile
XM_011523795.3:c.668C>T XP_011522097.1:p.Thr223Ile
NM_001143838.3:c.668C>T NP_001137310.1:p.Thr223Ile
NM_001284509.2:c.617C>T NP_001271438.1:p.Thr206Ile
NM_001284510.2:c.539C>T NP_001271439.1:p.Thr180Ile
NM_177550.5:c.668C>T MANE Select NP_808218.1:p.Thr223Ile