Canonical Allele Identifier: CA2245460377

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704039A= , CM000679.2:g.6704039A=	GRCh38
NC_000017.10:g.6607358A= , CM000679.1:g.6607358A=	GRCh37
NC_000017.9:g.6548082A=	NCBI36
NG_034220.1:g.14383T= , LRG_1020:g.14383T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.386T= MANE Select	ENSP00000406220.2:p.Met129=
ENST00000293800.10:c.369-34T=	ENSP00000293800.6:n.369-34T=
ENST00000381074.8:c.257T=	ENSP00000370464.4:p.Met86=
ENST00000433363.6:c.386T=	ENSP00000406220.2:p.Met129=
ENST00000572094.1:c.*136T=	ENSP00000461495.1:n.*136T=
ENST00000572352.5:c.275T=	ENSP00000461622.1:p.Met92=
ENST00000573648.5:c.386T=	ENSP00000459372.1:p.Met129=
ENST00000574824.5:n.1519T=
ENST00000575230.1:c.*232T=	ENSP00000460903.1:n.*232T=
ENST00000576323.1:n.416T=
NM_001143838.2:c.386T=	NP_001137310.1:p.Met129=
NM_001284509.1:c.369-34T=	NP_001271438.1:n.369-34T=
NM_001284510.1:c.257T=	NP_001271439.1:p.Met86=
NM_177550.4:c.386T= , LRG_1020t1:c.386T=	NP_808218.1:p.Met129=
XM_006721504.2:c.275T=	XP_006721567.1:p.Met92=
XM_011523795.1:c.386T=	XP_011522097.1:p.Met129=
XM_011523795.3:c.386T=	XP_011522097.1:p.Met129=
NM_001143838.3:c.386T=	NP_001137310.1:p.Met129=
NM_001284509.2:c.369-34T=	NP_001271438.1:n.369-34T=
NM_001284510.2:c.257T=	NP_001271439.1:p.Met86=
NM_177550.5:c.386T= MANE Select	NP_808218.1:p.Met129=