Canonical Allele Identifier: CA2245463483
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6707028C= , CM000679.2:g.6707028C= GRCh38
NC_000017.10:g.6610347C= , CM000679.1:g.6610347C= GRCh37
NC_000017.9:g.6551071C= NCBI36
NG_034220.1:g.11394G= , LRG_1020:g.11394G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.231G= MANE Select ENSP00000406220.2:p.Gln77=
ENST00000293800.10:c.231G= ENSP00000293800.6:p.Gln77=
ENST00000381074.8:c.103-250G= ENSP00000370464.4:n.103-250G=
ENST00000433363.6:c.231G= ENSP00000406220.2:p.Gln77=
ENST00000572094.1:c.227+4G= ENSP00000461495.1:n.227+4G=
ENST00000572352.5:c.120G= ENSP00000461622.1:p.Gln40=
ENST00000573648.5:c.231G= ENSP00000459372.1:p.Gln77=
ENST00000575230.1:c.231G= ENSP00000460903.1:p.Gln77=
ENST00000576323.1:n.261G=
NM_001143838.2:c.231G= NP_001137310.1:p.Gln77=
NM_001284509.1:c.231G= NP_001271438.1:p.Gln77=
NM_001284510.1:c.103-250G= NP_001271439.1:n.103-250G=
NM_177550.4:c.231G= , LRG_1020t1:c.231G= NP_808218.1:p.Gln77=
XM_006721504.2:c.120G= XP_006721567.1:p.Gln40=
XM_011523795.1:c.231G= XP_011522097.1:p.Gln77=
XM_011523795.3:c.231G= XP_011522097.1:p.Gln77=
NM_001143838.3:c.231G= NP_001137310.1:p.Gln77=
NM_001284509.2:c.231G= NP_001271438.1:p.Gln77=
NM_001284510.2:c.103-250G= NP_001271439.1:n.103-250G=
NM_177550.5:c.231G= MANE Select NP_808218.1:p.Gln77=