Canonical Allele Identifier: CA497596584
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6607252T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703933T>A , CM000679.2:g.6703933T>A GRCh38
NC_000017.10:g.6607252T>A , CM000679.1:g.6607252T>A GRCh37
NC_000017.9:g.6547976T>A NCBI36
NG_034220.1:g.14489A>T , LRG_1020:g.14489A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.492A>T MANE Select ENSP00000406220.2:p.Ala164=
ENST00000293800.10:c.441A>T ENSP00000293800.6:p.Ala147=
ENST00000381074.8:c.363A>T ENSP00000370464.4:p.Ala121=
ENST00000433363.6:c.492A>T ENSP00000406220.2:p.Ala164=
ENST00000572094.1:c.*242A>T ENSP00000461495.1:n.*242A>T
ENST00000572352.5:c.381A>T ENSP00000461622.1:p.Ala127=
ENST00000573648.5:c.492A>T ENSP00000459372.1:p.Ala164=
ENST00000574824.5:n.1625A>T
ENST00000576323.1:n.522A>T
NM_001143838.2:c.492A>T NP_001137310.1:p.Ala164=
NM_001284509.1:c.441A>T NP_001271438.1:p.Ala147=
NM_001284510.1:c.363A>T NP_001271439.1:p.Ala121=
NM_177550.4:c.492A>T , LRG_1020t1:c.492A>T NP_808218.1:p.Ala164=
XM_006721504.2:c.381A>T XP_006721567.1:p.Ala127=
XM_011523795.1:c.492A>T XP_011522097.1:p.Ala164=
XM_011523795.3:c.492A>T XP_011522097.1:p.Ala164=
NM_001143838.3:c.492A>T NP_001137310.1:p.Ala164=
NM_001284509.2:c.441A>T NP_001271438.1:p.Ala147=
NM_001284510.2:c.363A>T NP_001271439.1:p.Ala121=
NM_177550.5:c.492A>T MANE Select NP_808218.1:p.Ala164=