Canonical Allele Identifier: CA2245458920
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703006G= , CM000679.2:g.6703006G= GRCh38
NC_000017.10:g.6606325G= , CM000679.1:g.6606325G= GRCh37
NC_000017.9:g.6547049G= NCBI36
NG_034220.1:g.15416C= , LRG_1020:g.15416C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.680C= MANE Select ENSP00000406220.2:p.Thr227=
ENST00000293800.10:c.629C= ENSP00000293800.6:p.Thr210=
ENST00000381074.8:c.551C= ENSP00000370464.4:p.Thr184=
ENST00000433363.6:c.680C= ENSP00000406220.2:p.Thr227=
ENST00000572094.1:c.*430C= ENSP00000461495.1:n.*430C=
ENST00000573648.5:c.680C= ENSP00000459372.1:p.Thr227=
ENST00000574824.5:n.1813C=
NM_001143838.2:c.680C= NP_001137310.1:p.Thr227=
NM_001284509.1:c.629C= NP_001271438.1:p.Thr210=
NM_001284510.1:c.551C= NP_001271439.1:p.Thr184=
NM_177550.4:c.680C= , LRG_1020t1:c.680C= NP_808218.1:p.Thr227=
XM_006721504.2:c.569C= XP_006721567.1:p.Thr190=
XM_011523795.1:c.680C= XP_011522097.1:p.Thr227=
XM_011523795.3:c.680C= XP_011522097.1:p.Thr227=
NM_001143838.3:c.680C= NP_001137310.1:p.Thr227=
NM_001284509.2:c.629C= NP_001271438.1:p.Thr210=
NM_001284510.2:c.551C= NP_001271439.1:p.Thr184=
NM_177550.5:c.680C= MANE Select NP_808218.1:p.Thr227=