Canonical Allele Identifier: CA497596579
Gene: SLC13A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6607246G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703927G>C , CM000679.2:g.6703927G>C GRCh38
NC_000017.10:g.6607246G>C , CM000679.1:g.6607246G>C GRCh37
NC_000017.9:g.6547970G>C NCBI36
NG_034220.1:g.14495C>G , LRG_1020:g.14495C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000433363.7:c.498C>G MANE Select ENSP00000406220.2:p.Thr166=
ENST00000293800.10:c.447C>G ENSP00000293800.6:p.Thr149=
ENST00000381074.8:c.369C>G ENSP00000370464.4:p.Thr123=
ENST00000433363.6:c.498C>G ENSP00000406220.2:p.Thr166=
ENST00000572094.1:c.*248C>G ENSP00000461495.1:n.*248C>G
ENST00000572352.5:c.387C>G ENSP00000461622.1:p.Thr129=
ENST00000573648.5:c.498C>G ENSP00000459372.1:p.Thr166=
ENST00000574824.5:n.1631C>G
ENST00000576323.1:n.528C>G
NM_001143838.2:c.498C>G NP_001137310.1:p.Thr166=
NM_001284509.1:c.447C>G NP_001271438.1:p.Thr149=
NM_001284510.1:c.369C>G NP_001271439.1:p.Thr123=
NM_177550.4:c.498C>G , LRG_1020t1:c.498C>G NP_808218.1:p.Thr166=
XM_006721504.2:c.387C>G XP_006721567.1:p.Thr129=
XM_011523795.1:c.498C>G XP_011522097.1:p.Thr166=
XM_011523795.3:c.498C>G XP_011522097.1:p.Thr166=
NM_001143838.3:c.498C>G NP_001137310.1:p.Thr166=
NM_001284509.2:c.447C>G NP_001271438.1:p.Thr149=
NM_001284510.2:c.369C>G NP_001271439.1:p.Thr123=
NM_177550.5:c.498C>G MANE Select NP_808218.1:p.Thr166=