Canonical Allele Identifier: CA497596467
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6606330G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703011G>T , CM000679.2:g.6703011G>T GRCh38
NC_000017.10:g.6606330G>T , CM000679.1:g.6606330G>T GRCh37
NC_000017.9:g.6547054G>T NCBI36
NG_034220.1:g.15411C>A , LRG_1020:g.15411C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.675C>A MANE Select ENSP00000406220.2:p.Thr225=
ENST00000293800.10:c.624C>A ENSP00000293800.6:p.Thr208=
ENST00000381074.8:c.546C>A ENSP00000370464.4:p.Thr182=
ENST00000433363.6:c.675C>A ENSP00000406220.2:p.Thr225=
ENST00000572094.1:c.*425C>A ENSP00000461495.1:n.*425C>A
ENST00000573648.5:c.675C>A ENSP00000459372.1:p.Thr225=
ENST00000574824.5:n.1808C>A
NM_001143838.2:c.675C>A NP_001137310.1:p.Thr225=
NM_001284509.1:c.624C>A NP_001271438.1:p.Thr208=
NM_001284510.1:c.546C>A NP_001271439.1:p.Thr182=
NM_177550.4:c.675C>A , LRG_1020t1:c.675C>A NP_808218.1:p.Thr225=
XM_006721504.2:c.564C>A XP_006721567.1:p.Thr188=
XM_011523795.1:c.675C>A XP_011522097.1:p.Thr225=
XM_011523795.3:c.675C>A XP_011522097.1:p.Thr225=
NM_001143838.3:c.675C>A NP_001137310.1:p.Thr225=
NM_001284509.2:c.624C>A NP_001271438.1:p.Thr208=
NM_001284510.2:c.546C>A NP_001271439.1:p.Thr182=
NM_177550.5:c.675C>A MANE Select NP_808218.1:p.Thr225=