Canonical Allele Identifier: CA397743653
Gene: SLC13A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695759C>A , CM000679.2:g.6695759C>A GRCh38
NC_000017.10:g.6599078C>A , CM000679.1:g.6599078C>A GRCh37
NC_000017.9:g.6539802C>A NCBI36
NG_034220.1:g.22663G>T , LRG_1020:g.22663G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1022G>T MANE Select ENSP00000406220.2:p.Trp341Leu
ENST00000293800.10:c.971G>T ENSP00000293800.6:p.Trp324Leu
ENST00000381074.8:c.893G>T ENSP00000370464.4:p.Trp298Leu
ENST00000433363.6:c.1022G>T ENSP00000406220.2:p.Trp341Leu
ENST00000572727.1:n.131G>T
ENST00000573648.5:c.1022G>T ENSP00000459372.1:p.Trp341Leu
ENST00000574824.5:n.2155G>T
NM_001143838.2:c.1022G>T NP_001137310.1:p.Trp341Leu
NM_001284509.1:c.971G>T NP_001271438.1:p.Trp324Leu
NM_001284510.1:c.893G>T NP_001271439.1:p.Trp298Leu
NM_177550.4:c.1022G>T , LRG_1020t1:c.1022G>T NP_808218.1:p.Trp341Leu
XM_006721504.2:c.911G>T XP_006721567.1:p.Trp304Leu
XM_011523795.1:c.1022G>T XP_011522097.1:p.Trp341Leu
XM_011523795.3:c.1022G>T XP_011522097.1:p.Trp341Leu
NM_001143838.3:c.1022G>T NP_001137310.1:p.Trp341Leu
NM_001284509.2:c.971G>T NP_001271438.1:p.Trp324Leu
NM_001284510.2:c.893G>T NP_001271439.1:p.Trp298Leu
NM_177550.5:c.1022G>T MANE Select NP_808218.1:p.Trp341Leu