Canonical Allele Identifier: CA279908
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218174
ClinVar RCV Id: RCV000202401
dbSNP Id: rs863225448
MyVariant Identifiers: chr17:g.6590853C>G (hg19) chr17:g.6687534C>G (hg38)
PubMed: PMID:26384929
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687534C>G , CM000679.2:g.6687534C>G GRCh38
NC_000017.10:g.6590853C>G , CM000679.1:g.6590853C>G GRCh37
NC_000017.9:g.6531577C>G NCBI36
NG_034220.1:g.30888G>C , LRG_1020:g.30888G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000433363.7:c.1570G>C (SLC13A5) MANE Select ENSP00000406220.2:p.Asp524His
ENST00000635042.1:n.725-5331C>G (C17orf100)
ENST00000293800.10:c.1519G>C (SLC13A5) ENSP00000293800.6:p.Asp507His
ENST00000381074.8:c.1441G>C (SLC13A5) ENSP00000370464.4:p.Asp481His
ENST00000433363.6:c.1570G>C (SLC13A5) ENSP00000406220.2:p.Asp524His
ENST00000570687.1:c.239G>C (SLC13A5)
ENST00000573648.5:c.1438-1196G>C (SLC13A5) ENSP00000459372.1:n.1438-1196G>C
ENST00000574580.2:n.2587G>C (SLC13A5)
ENST00000634558.1:n.511-2342C>G (ALOX15P1)
ENST00000634823.1:n.265-5331C>G (ALOX15P1)
NM_001143838.2:c.1438-1196G>C (SLC13A5) NP_001137310.1:n.1438-1196G>C
NM_001284509.1:c.1519G>C (SLC13A5) NP_001271438.1:p.Asp507His
NM_001284510.1:c.1441G>C (SLC13A5) NP_001271439.1:p.Asp481His
NM_177550.4:c.1570G>C , LRG_1020t1:c.1570G>C (SLC13A5) NP_808218.1:p.Asp524His
XM_006721504.2:c.1459G>C (SLC13A5) XP_006721567.1:p.Asp487His
XM_011523795.3:c.*243G>C (SLC13A5) XP_011522097.1:n.*243G>C
NM_001143838.3:c.1438-1196G>C (SLC13A5) NP_001137310.1:n.1438-1196G>C
NM_001284509.2:c.1519G>C (SLC13A5) NP_001271438.1:p.Asp507His
NM_001284510.2:c.1441G>C (SLC13A5) NP_001271439.1:p.Asp481His
NM_177550.5:c.1570G>C (SLC13A5) MANE Select NP_808218.1:p.Asp524His
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