Canonical Allele Identifier: CA2245487562
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695776G= , CM000679.2:g.6695776G= GRCh38
NC_000017.10:g.6599095G= , CM000679.1:g.6599095G= GRCh37
NC_000017.9:g.6539819G= NCBI36
NG_034220.1:g.22646C= , LRG_1020:g.22646C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1005C= MANE Select ENSP00000406220.2:p.Pro335=
ENST00000293800.10:c.954C= ENSP00000293800.6:p.Pro318=
ENST00000381074.8:c.876C= ENSP00000370464.4:p.Pro292=
ENST00000433363.6:c.1005C= ENSP00000406220.2:p.Pro335=
ENST00000572727.1:n.114C=
ENST00000573648.5:c.1005C= ENSP00000459372.1:p.Pro335=
ENST00000574824.5:n.2138C=
NM_001143838.2:c.1005C= NP_001137310.1:p.Pro335=
NM_001284509.1:c.954C= NP_001271438.1:p.Pro318=
NM_001284510.1:c.876C= NP_001271439.1:p.Pro292=
NM_177550.4:c.1005C= , LRG_1020t1:c.1005C= NP_808218.1:p.Pro335=
XM_006721504.2:c.894C= XP_006721567.1:p.Pro298=
XM_011523795.1:c.1005C= XP_011522097.1:p.Pro335=
XM_011523795.3:c.1005C= XP_011522097.1:p.Pro335=
NM_001143838.3:c.1005C= NP_001137310.1:p.Pro335=
NM_001284509.2:c.954C= NP_001271438.1:p.Pro318=
NM_001284510.2:c.876C= NP_001271439.1:p.Pro292=
NM_177550.5:c.1005C= MANE Select NP_808218.1:p.Pro335=