Canonical Allele Identifier: CA2245487567
Community Standard Title: NM_177550.5(SLC13A5):c.997C= (p.Arg333=)
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695784G= , CM000679.2:g.6695784G= GRCh38
NC_000017.10:g.6599103G= , CM000679.1:g.6599103G= GRCh37
NC_000017.9:g.6539827G= NCBI36
NG_034220.1:g.22638C= , LRG_1020:g.22638C=

Transcript Alleles

HGVS Amino-acid Change
NM_177550.5:c.997C= MANE Select NP_808218.1:p.Arg333=
ENST00000433363.7:c.997C= MANE Select ENSP00000406220.2:p.Arg333=
NM_001143838.2:c.997C= NP_001137310.1:p.Arg333=
NM_001143838.3:c.997C= NP_001137310.1:p.Arg333=
NM_001284509.1:c.946C= NP_001271438.1:p.Arg316=
NM_001284509.2:c.946C= NP_001271438.1:p.Arg316=
NM_001284510.1:c.868C= NP_001271439.1:p.Arg290=
NM_001284510.2:c.868C= NP_001271439.1:p.Arg290=
NM_177550.4:c.997C= , LRG_1020t1:c.997C= NP_808218.1:p.Arg333=
ENST00000293800.10:c.946C= ENSP00000293800.6:p.Arg316=
ENST00000381074.8:c.868C= ENSP00000370464.4:p.Arg290=
ENST00000433363.6:c.997C= ENSP00000406220.2:p.Arg333=
ENST00000572727.1:n.106C=
ENST00000573648.5:c.997C= ENSP00000459372.1:p.Arg333=
ENST00000574824.5:n.2130C=
XM_006721504.2:c.886C= XP_006721567.1:p.Arg296=
XM_011523795.1:c.997C= XP_011522097.1:p.Arg333=
XM_011523795.3:c.997C= XP_011522097.1:p.Arg333=