Canonical Allele Identifier: CA497596270
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6599104G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695785G>A , CM000679.2:g.6695785G>A GRCh38
NC_000017.10:g.6599104G>A , CM000679.1:g.6599104G>A GRCh37
NC_000017.9:g.6539828G>A NCBI36
NG_034220.1:g.22637C>T , LRG_1020:g.22637C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.996C>T MANE Select ENSP00000406220.2:p.Ser332=
ENST00000293800.10:c.945C>T ENSP00000293800.6:p.Ser315=
ENST00000381074.8:c.867C>T ENSP00000370464.4:p.Ser289=
ENST00000433363.6:c.996C>T ENSP00000406220.2:p.Ser332=
ENST00000572727.1:n.105C>T
ENST00000573648.5:c.996C>T ENSP00000459372.1:p.Ser332=
ENST00000574824.5:n.2129C>T
NM_001143838.2:c.996C>T NP_001137310.1:p.Ser332=
NM_001284509.1:c.945C>T NP_001271438.1:p.Ser315=
NM_001284510.1:c.867C>T NP_001271439.1:p.Ser289=
NM_177550.4:c.996C>T , LRG_1020t1:c.996C>T NP_808218.1:p.Ser332=
XM_006721504.2:c.885C>T XP_006721567.1:p.Ser295=
XM_011523795.1:c.996C>T XP_011522097.1:p.Ser332=
XM_011523795.3:c.996C>T XP_011522097.1:p.Ser332=
NM_001143838.3:c.996C>T NP_001137310.1:p.Ser332=
NM_001284509.2:c.945C>T NP_001271438.1:p.Ser315=
NM_001284510.2:c.867C>T NP_001271439.1:p.Ser289=
NM_177550.5:c.996C>T MANE Select NP_808218.1:p.Ser332=