Canonical Allele Identifier: CA497596464
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6606327C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703008C>G , CM000679.2:g.6703008C>G GRCh38
NC_000017.10:g.6606327C>G , CM000679.1:g.6606327C>G GRCh37
NC_000017.9:g.6547051C>G NCBI36
NG_034220.1:g.15414G>C , LRG_1020:g.15414G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.678G>C MANE Select ENSP00000406220.2:p.Gly226=
ENST00000293800.10:c.627G>C ENSP00000293800.6:p.Gly209=
ENST00000381074.8:c.549G>C ENSP00000370464.4:p.Gly183=
ENST00000433363.6:c.678G>C ENSP00000406220.2:p.Gly226=
ENST00000572094.1:c.*428G>C ENSP00000461495.1:n.*428G>C
ENST00000573648.5:c.678G>C ENSP00000459372.1:p.Gly226=
ENST00000574824.5:n.1811G>C
NM_001143838.2:c.678G>C NP_001137310.1:p.Gly226=
NM_001284509.1:c.627G>C NP_001271438.1:p.Gly209=
NM_001284510.1:c.549G>C NP_001271439.1:p.Gly183=
NM_177550.4:c.678G>C , LRG_1020t1:c.678G>C NP_808218.1:p.Gly226=
XM_006721504.2:c.567G>C XP_006721567.1:p.Gly189=
XM_011523795.1:c.678G>C XP_011522097.1:p.Gly226=
XM_011523795.3:c.678G>C XP_011522097.1:p.Gly226=
NM_001143838.3:c.678G>C NP_001137310.1:p.Gly226=
NM_001284509.2:c.627G>C NP_001271438.1:p.Gly209=
NM_001284510.2:c.549G>C NP_001271439.1:p.Gly183=
NM_177550.5:c.678G>C MANE Select NP_808218.1:p.Gly226=