Canonical Allele Identifier: CA497596473
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6606336G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703017G>C , CM000679.2:g.6703017G>C GRCh38
NC_000017.10:g.6606336G>C , CM000679.1:g.6606336G>C GRCh37
NC_000017.9:g.6547060G>C NCBI36
NG_034220.1:g.15405C>G , LRG_1020:g.15405C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.669C>G MANE Select ENSP00000406220.2:p.Thr223=
ENST00000293800.10:c.618C>G ENSP00000293800.6:p.Thr206=
ENST00000381074.8:c.540C>G ENSP00000370464.4:p.Thr180=
ENST00000433363.6:c.669C>G ENSP00000406220.2:p.Thr223=
ENST00000572094.1:c.*419C>G ENSP00000461495.1:n.*419C>G
ENST00000573648.5:c.669C>G ENSP00000459372.1:p.Thr223=
ENST00000574824.5:n.1802C>G
NM_001143838.2:c.669C>G NP_001137310.1:p.Thr223=
NM_001284509.1:c.618C>G NP_001271438.1:p.Thr206=
NM_001284510.1:c.540C>G NP_001271439.1:p.Thr180=
NM_177550.4:c.669C>G , LRG_1020t1:c.669C>G NP_808218.1:p.Thr223=
XM_006721504.2:c.558C>G XP_006721567.1:p.Thr186=
XM_011523795.1:c.669C>G XP_011522097.1:p.Thr223=
XM_011523795.3:c.669C>G XP_011522097.1:p.Thr223=
NM_001143838.3:c.669C>G NP_001137310.1:p.Thr223=
NM_001284509.2:c.618C>G NP_001271438.1:p.Thr206=
NM_001284510.2:c.540C>G NP_001271439.1:p.Thr180=
NM_177550.5:c.669C>G MANE Select NP_808218.1:p.Thr223=