Canonical Allele Identifier: CA2245482748
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687641A= , CM000679.2:g.6687641A= GRCh38
NC_000017.10:g.6590960A= , CM000679.1:g.6590960A= GRCh37
NC_000017.9:g.6531684A= NCBI36
NG_034220.1:g.30781T= , LRG_1020:g.30781T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1463T= (SLC13A5) MANE Select ENSP00000406220.2:p.Leu488=
ENST00000635042.1:n.725-5224A= (C17orf100)
ENST00000293800.10:c.1412T= (SLC13A5) ENSP00000293800.6:p.Leu471=
ENST00000381074.8:c.1334T= (SLC13A5) ENSP00000370464.4:p.Leu445=
ENST00000433363.6:c.1463T= (SLC13A5) ENSP00000406220.2:p.Leu488=
ENST00000570687.1:c.132T= (SLC13A5)
ENST00000573648.5:c.1438-1303T= (SLC13A5) ENSP00000459372.1:n.1438-1303T=
ENST00000574580.2:n.2480T= (SLC13A5)
ENST00000634558.1:n.511-2235A= (ALOX15P1)
ENST00000634823.1:n.265-5224A= (ALOX15P1)
NM_001143838.2:c.1438-1303T= (SLC13A5) NP_001137310.1:n.1438-1303T=
NM_001284509.1:c.1412T= (SLC13A5) NP_001271438.1:p.Leu471=
NM_001284510.1:c.1334T= (SLC13A5) NP_001271439.1:p.Leu445=
NM_177550.4:c.1463T= , LRG_1020t1:c.1463T= (SLC13A5) NP_808218.1:p.Leu488=
XM_006721504.2:c.1352T= (SLC13A5) XP_006721567.1:p.Leu451=
XM_011523795.3:c.*136T= (SLC13A5) XP_011522097.1:n.*136T=
NM_001143838.3:c.1438-1303T= (SLC13A5) NP_001137310.1:n.1438-1303T=
NM_001284509.2:c.1412T= (SLC13A5) NP_001271438.1:p.Leu471=
NM_001284510.2:c.1334T= (SLC13A5) NP_001271439.1:p.Leu445=
NM_177550.5:c.1463T= (SLC13A5) MANE Select NP_808218.1:p.Leu488=