Canonical Allele Identifier: CA397751944
Gene: SLC13A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6707132T>G , CM000679.2:g.6707132T>G GRCh38
NC_000017.10:g.6610451T>G , CM000679.1:g.6610451T>G GRCh37
NC_000017.9:g.6551175T>G NCBI36
NG_034220.1:g.11290A>C , LRG_1020:g.11290A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.127A>C MANE Select ENSP00000406220.2:p.Ile43Leu
ENST00000293800.10:c.127A>C ENSP00000293800.6:p.Ile43Leu
ENST00000381074.8:c.103-354A>C ENSP00000370464.4:n.103-354A>C
ENST00000433363.6:c.127A>C ENSP00000406220.2:p.Ile43Leu
ENST00000572094.1:c.127A>C ENSP00000461495.1:p.Ile43Leu
ENST00000572352.5:c.103-87A>C ENSP00000461622.1:n.103-87A>C
ENST00000573648.5:c.127A>C ENSP00000459372.1:p.Ile43Leu
ENST00000575230.1:c.127A>C ENSP00000460903.1:p.Ile43Leu
ENST00000576323.1:n.157A>C
NM_001143838.2:c.127A>C NP_001137310.1:p.Ile43Leu
NM_001284509.1:c.127A>C NP_001271438.1:p.Ile43Leu
NM_001284510.1:c.103-354A>C NP_001271439.1:n.103-354A>C
NM_177550.4:c.127A>C , LRG_1020t1:c.127A>C NP_808218.1:p.Ile43Leu
XM_006721504.2:c.103-87A>C XP_006721567.1:n.103-87A>C
XM_011523795.1:c.127A>C XP_011522097.1:p.Ile43Leu
XM_011523795.3:c.127A>C XP_011522097.1:p.Ile43Leu
NM_001143838.3:c.127A>C NP_001137310.1:p.Ile43Leu
NM_001284509.2:c.127A>C NP_001271438.1:p.Ile43Leu
NM_001284510.2:c.103-354A>C NP_001271439.1:n.103-354A>C
NM_177550.5:c.127A>C MANE Select NP_808218.1:p.Ile43Leu