Canonical Allele Identifier: CA497596596
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6607279T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703960T>A , CM000679.2:g.6703960T>A GRCh38
NC_000017.10:g.6607279T>A , CM000679.1:g.6607279T>A GRCh37
NC_000017.9:g.6548003T>A NCBI36
NG_034220.1:g.14462A>T , LRG_1020:g.14462A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.465A>T MANE Select ENSP00000406220.2:p.Ile155=
ENST00000293800.10:c.414A>T ENSP00000293800.6:p.Ile138=
ENST00000381074.8:c.336A>T ENSP00000370464.4:p.Ile112=
ENST00000433363.6:c.465A>T ENSP00000406220.2:p.Ile155=
ENST00000572094.1:c.*215A>T ENSP00000461495.1:n.*215A>T
ENST00000572352.5:c.354A>T ENSP00000461622.1:p.Ile118=
ENST00000573648.5:c.465A>T ENSP00000459372.1:p.Ile155=
ENST00000574824.5:n.1598A>T
ENST00000576323.1:n.495A>T
NM_001143838.2:c.465A>T NP_001137310.1:p.Ile155=
NM_001284509.1:c.414A>T NP_001271438.1:p.Ile138=
NM_001284510.1:c.336A>T NP_001271439.1:p.Ile112=
NM_177550.4:c.465A>T , LRG_1020t1:c.465A>T NP_808218.1:p.Ile155=
XM_006721504.2:c.354A>T XP_006721567.1:p.Ile118=
XM_011523795.1:c.465A>T XP_011522097.1:p.Ile155=
XM_011523795.3:c.465A>T XP_011522097.1:p.Ile155=
NM_001143838.3:c.465A>T NP_001137310.1:p.Ile155=
NM_001284509.2:c.414A>T NP_001271438.1:p.Ile138=
NM_001284510.2:c.336A>T NP_001271439.1:p.Ile112=
NM_177550.5:c.465A>T MANE Select NP_808218.1:p.Ile155=