Canonical Allele Identifier: CA497596340
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6599206G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695887G>C , CM000679.2:g.6695887G>C GRCh38
NC_000017.10:g.6599206G>C , CM000679.1:g.6599206G>C GRCh37
NC_000017.9:g.6539930G>C NCBI36
NG_034220.1:g.22535C>G , LRG_1020:g.22535C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.894C>G MANE Select ENSP00000406220.2:p.Ala298=
ENST00000293800.10:c.843C>G ENSP00000293800.6:p.Ala281=
ENST00000381074.8:c.765C>G ENSP00000370464.4:p.Ala255=
ENST00000433363.6:c.894C>G ENSP00000406220.2:p.Ala298=
ENST00000572094.1:c.*644C>G ENSP00000461495.1:n.*644C>G
ENST00000572727.1:n.3C>G
ENST00000573648.5:c.894C>G ENSP00000459372.1:p.Ala298=
ENST00000574824.5:n.2027C>G
NM_001143838.2:c.894C>G NP_001137310.1:p.Ala298=
NM_001284509.1:c.843C>G NP_001271438.1:p.Ala281=
NM_001284510.1:c.765C>G NP_001271439.1:p.Ala255=
NM_177550.4:c.894C>G , LRG_1020t1:c.894C>G NP_808218.1:p.Ala298=
XM_006721504.2:c.783C>G XP_006721567.1:p.Ala261=
XM_011523795.1:c.894C>G XP_011522097.1:p.Ala298=
XM_011523795.3:c.894C>G XP_011522097.1:p.Ala298=
NM_001143838.3:c.894C>G NP_001137310.1:p.Ala298=
NM_001284509.2:c.843C>G NP_001271438.1:p.Ala281=
NM_001284510.2:c.765C>G NP_001271439.1:p.Ala255=
NM_177550.5:c.894C>G MANE Select NP_808218.1:p.Ala298=