Canonical Allele Identifier: CA2245460349
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6704027G= , CM000679.2:g.6704027G= GRCh38
NC_000017.10:g.6607346G= , CM000679.1:g.6607346G= GRCh37
NC_000017.9:g.6548070G= NCBI36
NG_034220.1:g.14395C= , LRG_1020:g.14395C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.398C= MANE Select ENSP00000406220.2:p.Ala133=
ENST00000293800.10:c.369-22C= ENSP00000293800.6:n.369-22C=
ENST00000381074.8:c.269C= ENSP00000370464.4:p.Ala90=
ENST00000433363.6:c.398C= ENSP00000406220.2:p.Ala133=
ENST00000572094.1:c.*148C= ENSP00000461495.1:n.*148C=
ENST00000572352.5:c.287C= ENSP00000461622.1:p.Ala96=
ENST00000573648.5:c.398C= ENSP00000459372.1:p.Ala133=
ENST00000574824.5:n.1531C=
ENST00000576323.1:n.428C=
NM_001143838.2:c.398C= NP_001137310.1:p.Ala133=
NM_001284509.1:c.369-22C= NP_001271438.1:n.369-22C=
NM_001284510.1:c.269C= NP_001271439.1:p.Ala90=
NM_177550.4:c.398C= , LRG_1020t1:c.398C= NP_808218.1:p.Ala133=
XM_006721504.2:c.287C= XP_006721567.1:p.Ala96=
XM_011523795.1:c.398C= XP_011522097.1:p.Ala133=
XM_011523795.3:c.398C= XP_011522097.1:p.Ala133=
NM_001143838.3:c.398C= NP_001137310.1:p.Ala133=
NM_001284509.2:c.369-22C= NP_001271438.1:n.369-22C=
NM_001284510.2:c.269C= NP_001271439.1:p.Ala90=
NM_177550.5:c.398C= MANE Select NP_808218.1:p.Ala133=