Canonical Allele Identifier: CA2245487618
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695906T= , CM000679.2:g.6695906T= GRCh38
NC_000017.10:g.6599225T= , CM000679.1:g.6599225T= GRCh37
NC_000017.9:g.6539949T= NCBI36
NG_034220.1:g.22516A= , LRG_1020:g.22516A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.875A= MANE Select ENSP00000406220.2:p.Lys292=
ENST00000293800.10:c.824A= ENSP00000293800.6:p.Lys275=
ENST00000381074.8:c.746A= ENSP00000370464.4:p.Lys249=
ENST00000433363.6:c.875A= ENSP00000406220.2:p.Lys292=
ENST00000572094.1:c.*625A= ENSP00000461495.1:n.*625A=
ENST00000573648.5:c.875A= ENSP00000459372.1:p.Lys292=
ENST00000574824.5:n.2008A=
NM_001143838.2:c.875A= NP_001137310.1:p.Lys292=
NM_001284509.1:c.824A= NP_001271438.1:p.Lys275=
NM_001284510.1:c.746A= NP_001271439.1:p.Lys249=
NM_177550.4:c.875A= , LRG_1020t1:c.875A= NP_808218.1:p.Lys292=
XM_006721504.2:c.764A= XP_006721567.1:p.Lys255=
XM_011523795.1:c.875A= XP_011522097.1:p.Lys292=
XM_011523795.3:c.875A= XP_011522097.1:p.Lys292=
NM_001143838.3:c.875A= NP_001137310.1:p.Lys292=
NM_001284509.2:c.824A= NP_001271438.1:p.Lys275=
NM_001284510.2:c.746A= NP_001271439.1:p.Lys249=
NM_177550.5:c.875A= MANE Select NP_808218.1:p.Lys292=