Canonical Allele Identifier: CA2245487602
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695875C= , CM000679.2:g.6695875C= GRCh38
NC_000017.10:g.6599194C= , CM000679.1:g.6599194C= GRCh37
NC_000017.9:g.6539918C= NCBI36
NG_034220.1:g.22547G= , LRG_1020:g.22547G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.906G= MANE Select ENSP00000406220.2:p.Leu302=
ENST00000293800.10:c.855G= ENSP00000293800.6:p.Leu285=
ENST00000381074.8:c.777G= ENSP00000370464.4:p.Leu259=
ENST00000433363.6:c.906G= ENSP00000406220.2:p.Leu302=
ENST00000572094.1:c.*656G= ENSP00000461495.1:n.*656G=
ENST00000572727.1:n.15G=
ENST00000573648.5:c.906G= ENSP00000459372.1:p.Leu302=
ENST00000574824.5:n.2039G=
NM_001143838.2:c.906G= NP_001137310.1:p.Leu302=
NM_001284509.1:c.855G= NP_001271438.1:p.Leu285=
NM_001284510.1:c.777G= NP_001271439.1:p.Leu259=
NM_177550.4:c.906G= , LRG_1020t1:c.906G= NP_808218.1:p.Leu302=
XM_006721504.2:c.795G= XP_006721567.1:p.Leu265=
XM_011523795.1:c.906G= XP_011522097.1:p.Leu302=
XM_011523795.3:c.906G= XP_011522097.1:p.Leu302=
NM_001143838.3:c.906G= NP_001137310.1:p.Leu302=
NM_001284509.2:c.855G= NP_001271438.1:p.Leu285=
NM_001284510.2:c.777G= NP_001271439.1:p.Leu259=
NM_177550.5:c.906G= MANE Select NP_808218.1:p.Leu302=