Canonical Allele Identifier: CA397743354

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6599048G>C (hg19) ; chr17:g.6695729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695729G>C , CM000679.2:g.6695729G>C	GRCh38
NC_000017.10:g.6599048G>C , CM000679.1:g.6599048G>C	GRCh37
NC_000017.9:g.6539772G>C	NCBI36
NG_034220.1:g.22693C>G , LRG_1020:g.22693C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1052C>G MANE Select	ENSP00000406220.2:p.Thr351Arg
ENST00000293800.10:c.1001C>G	ENSP00000293800.6:p.Thr334Arg
ENST00000381074.8:c.923C>G	ENSP00000370464.4:p.Thr308Arg
ENST00000433363.6:c.1052C>G	ENSP00000406220.2:p.Thr351Arg
ENST00000572727.1:n.161C>G
ENST00000573648.5:c.1052C>G	ENSP00000459372.1:p.Thr351Arg
ENST00000574824.5:n.2185C>G
NM_001143838.2:c.1052C>G	NP_001137310.1:p.Thr351Arg
NM_001284509.1:c.1001C>G	NP_001271438.1:p.Thr334Arg
NM_001284510.1:c.923C>G	NP_001271439.1:p.Thr308Arg
NM_177550.4:c.1052C>G , LRG_1020t1:c.1052C>G	NP_808218.1:p.Thr351Arg
XM_006721504.2:c.941C>G	XP_006721567.1:p.Thr314Arg
XM_011523795.1:c.1052C>G	XP_011522097.1:p.Thr351Arg
XM_011523795.3:c.1052C>G	XP_011522097.1:p.Thr351Arg
NM_001143838.3:c.1052C>G	NP_001137310.1:p.Thr351Arg
NM_001284509.2:c.1001C>G	NP_001271438.1:p.Thr334Arg
NM_001284510.2:c.923C>G	NP_001271439.1:p.Thr308Arg
NM_177550.5:c.1052C>G MANE Select	NP_808218.1:p.Thr351Arg