Canonical Allele Identifier: CA2245460139
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703928G= , CM000679.2:g.6703928G= GRCh38
NC_000017.10:g.6607247G= , CM000679.1:g.6607247G= GRCh37
NC_000017.9:g.6547971G= NCBI36
NG_034220.1:g.14494C= , LRG_1020:g.14494C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.497C= MANE Select ENSP00000406220.2:p.Thr166=
ENST00000293800.10:c.446C= ENSP00000293800.6:p.Thr149=
ENST00000381074.8:c.368C= ENSP00000370464.4:p.Thr123=
ENST00000433363.6:c.497C= ENSP00000406220.2:p.Thr166=
ENST00000572094.1:c.*247C= ENSP00000461495.1:n.*247C=
ENST00000572352.5:c.386C= ENSP00000461622.1:p.Thr129=
ENST00000573648.5:c.497C= ENSP00000459372.1:p.Thr166=
ENST00000574824.5:n.1630C=
ENST00000576323.1:n.527C=
NM_001143838.2:c.497C= NP_001137310.1:p.Thr166=
NM_001284509.1:c.446C= NP_001271438.1:p.Thr149=
NM_001284510.1:c.368C= NP_001271439.1:p.Thr123=
NM_177550.4:c.497C= , LRG_1020t1:c.497C= NP_808218.1:p.Thr166=
XM_006721504.2:c.386C= XP_006721567.1:p.Thr129=
XM_011523795.1:c.497C= XP_011522097.1:p.Thr166=
XM_011523795.3:c.497C= XP_011522097.1:p.Thr166=
NM_001143838.3:c.497C= NP_001137310.1:p.Thr166=
NM_001284509.2:c.446C= NP_001271438.1:p.Thr149=
NM_001284510.2:c.368C= NP_001271439.1:p.Thr123=
NM_177550.5:c.497C= MANE Select NP_808218.1:p.Thr166=