Canonical Allele Identifier: CA2245460332
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6704020C= , CM000679.2:g.6704020C= GRCh38
NC_000017.10:g.6607339C= , CM000679.1:g.6607339C= GRCh37
NC_000017.9:g.6548063C= NCBI36
NG_034220.1:g.14402G= , LRG_1020:g.14402G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.405G= MANE Select ENSP00000406220.2:p.Leu135=
ENST00000293800.10:c.369-15G= ENSP00000293800.6:n.369-15G=
ENST00000381074.8:c.276G= ENSP00000370464.4:p.Leu92=
ENST00000433363.6:c.405G= ENSP00000406220.2:p.Leu135=
ENST00000572094.1:c.*155G= ENSP00000461495.1:n.*155G=
ENST00000572352.5:c.294G= ENSP00000461622.1:p.Leu98=
ENST00000573648.5:c.405G= ENSP00000459372.1:p.Leu135=
ENST00000574824.5:n.1538G=
ENST00000576323.1:n.435G=
NM_001143838.2:c.405G= NP_001137310.1:p.Leu135=
NM_001284509.1:c.369-15G= NP_001271438.1:n.369-15G=
NM_001284510.1:c.276G= NP_001271439.1:p.Leu92=
NM_177550.4:c.405G= , LRG_1020t1:c.405G= NP_808218.1:p.Leu135=
XM_006721504.2:c.294G= XP_006721567.1:p.Leu98=
XM_011523795.1:c.405G= XP_011522097.1:p.Leu135=
XM_011523795.3:c.405G= XP_011522097.1:p.Leu135=
NM_001143838.3:c.405G= NP_001137310.1:p.Leu135=
NM_001284509.2:c.369-15G= NP_001271438.1:n.369-15G=
NM_001284510.2:c.276G= NP_001271439.1:p.Leu92=
NM_177550.5:c.405G= MANE Select NP_808218.1:p.Leu135=