Canonical Allele Identifier: CA2245487630

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695932C= , CM000679.2:g.6695932C=	GRCh38
NC_000017.10:g.6599251C= , CM000679.1:g.6599251C=	GRCh37
NC_000017.9:g.6539975C=	NCBI36
NG_034220.1:g.22490G= , LRG_1020:g.22490G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.849G= MANE Select	ENSP00000406220.2:p.Lys283=
ENST00000293800.10:c.798G=	ENSP00000293800.6:p.Lys266=
ENST00000381074.8:c.720G=	ENSP00000370464.4:p.Lys240=
ENST00000433363.6:c.849G=	ENSP00000406220.2:p.Lys283=
ENST00000572094.1:c.*599G=	ENSP00000461495.1:n.*599G=
ENST00000573648.5:c.849G=	ENSP00000459372.1:p.Lys283=
ENST00000574824.5:n.1982G=
NM_001143838.2:c.849G=	NP_001137310.1:p.Lys283=
NM_001284509.1:c.798G=	NP_001271438.1:p.Lys266=
NM_001284510.1:c.720G=	NP_001271439.1:p.Lys240=
NM_177550.4:c.849G= , LRG_1020t1:c.849G=	NP_808218.1:p.Lys283=
XM_006721504.2:c.738G=	XP_006721567.1:p.Lys246=
XM_011523795.1:c.849G=	XP_011522097.1:p.Lys283=
XM_011523795.3:c.849G=	XP_011522097.1:p.Lys283=
NM_001143838.3:c.849G=	NP_001137310.1:p.Lys283=
NM_001284509.2:c.798G=	NP_001271438.1:p.Lys266=
NM_001284510.2:c.720G=	NP_001271439.1:p.Lys240=
NM_177550.5:c.849G= MANE Select	NP_808218.1:p.Lys283=