Canonical Allele Identifier: CA397744080

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6599112A>G (hg19) ; chr17:g.6695793A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695793A>G , CM000679.2:g.6695793A>G	GRCh38
NC_000017.10:g.6599112A>G , CM000679.1:g.6599112A>G	GRCh37
NC_000017.9:g.6539836A>G	NCBI36
NG_034220.1:g.22629T>C , LRG_1020:g.22629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.988T>C MANE Select	ENSP00000406220.2:p.Trp330Arg
ENST00000293800.10:c.937T>C	ENSP00000293800.6:p.Trp313Arg
ENST00000381074.8:c.859T>C	ENSP00000370464.4:p.Trp287Arg
ENST00000433363.6:c.988T>C	ENSP00000406220.2:p.Trp330Arg
ENST00000572727.1:n.97T>C
ENST00000573648.5:c.988T>C	ENSP00000459372.1:p.Trp330Arg
ENST00000574824.5:n.2121T>C
NM_001143838.2:c.988T>C	NP_001137310.1:p.Trp330Arg
NM_001284509.1:c.937T>C	NP_001271438.1:p.Trp313Arg
NM_001284510.1:c.859T>C	NP_001271439.1:p.Trp287Arg
NM_177550.4:c.988T>C , LRG_1020t1:c.988T>C	NP_808218.1:p.Trp330Arg
XM_006721504.2:c.877T>C	XP_006721567.1:p.Trp293Arg
XM_011523795.1:c.988T>C	XP_011522097.1:p.Trp330Arg
XM_011523795.3:c.988T>C	XP_011522097.1:p.Trp330Arg
NM_001143838.3:c.988T>C	NP_001137310.1:p.Trp330Arg
NM_001284509.2:c.937T>C	NP_001271438.1:p.Trp313Arg
NM_001284510.2:c.859T>C	NP_001271439.1:p.Trp287Arg
NM_177550.5:c.988T>C MANE Select	NP_808218.1:p.Trp330Arg