Canonical Allele Identifier: CA2245460367
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6704035G= , CM000679.2:g.6704035G= GRCh38
NC_000017.10:g.6607354G= , CM000679.1:g.6607354G= GRCh37
NC_000017.9:g.6548078G= NCBI36
NG_034220.1:g.14387C= , LRG_1020:g.14387C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.390C= MANE Select ENSP00000406220.2:p.Gly130=
ENST00000293800.10:c.369-30C= ENSP00000293800.6:n.369-30C=
ENST00000381074.8:c.261C= ENSP00000370464.4:p.Gly87=
ENST00000433363.6:c.390C= ENSP00000406220.2:p.Gly130=
ENST00000572094.1:c.*140C= ENSP00000461495.1:n.*140C=
ENST00000572352.5:c.279C= ENSP00000461622.1:p.Gly93=
ENST00000573648.5:c.390C= ENSP00000459372.1:p.Gly130=
ENST00000574824.5:n.1523C=
ENST00000576323.1:n.420C=
NM_001143838.2:c.390C= NP_001137310.1:p.Gly130=
NM_001284509.1:c.369-30C= NP_001271438.1:n.369-30C=
NM_001284510.1:c.261C= NP_001271439.1:p.Gly87=
NM_177550.4:c.390C= , LRG_1020t1:c.390C= NP_808218.1:p.Gly130=
XM_006721504.2:c.279C= XP_006721567.1:p.Gly93=
XM_011523795.1:c.390C= XP_011522097.1:p.Gly130=
XM_011523795.3:c.390C= XP_011522097.1:p.Gly130=
NM_001143838.3:c.390C= NP_001137310.1:p.Gly130=
NM_001284509.2:c.369-30C= NP_001271438.1:n.369-30C=
NM_001284510.2:c.261C= NP_001271439.1:p.Gly87=
NM_177550.5:c.390C= MANE Select NP_808218.1:p.Gly130=