Canonical Allele Identifier: CA8331365
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475195
ClinVar RCV Id: RCV000555123
dbSNP Id: rs779942374
gnomAD v2: 17-6590973-C-T
gnomAD v3: 17-6687654-C-T
gnomAD v4: 17-6687654-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687654C>T , CM000679.2:g.6687654C>T GRCh38
NC_000017.10:g.6590973C>T , CM000679.1:g.6590973C>T GRCh37
NC_000017.9:g.6531697C>T NCBI36
NG_034220.1:g.30768G>A , LRG_1020:g.30768G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1450G>A (SLC13A5) MANE Select ENSP00000406220.2:p.Gly484Ser
ENST00000635042.1:n.725-5211C>T (C17orf100)
ENST00000293800.10:c.1399G>A (SLC13A5) ENSP00000293800.6:p.Gly467Ser
ENST00000381074.8:c.1321G>A (SLC13A5) ENSP00000370464.4:p.Gly441Ser
ENST00000433363.6:c.1450G>A (SLC13A5) ENSP00000406220.2:p.Gly484Ser
ENST00000570687.1:c.119G>A (SLC13A5)
ENST00000573648.5:c.1438-1316G>A (SLC13A5) ENSP00000459372.1:n.1438-1316G>A
ENST00000574580.2:n.2467G>A (SLC13A5)
ENST00000634558.1:n.511-2222C>T (ALOX15P1)
ENST00000634823.1:n.265-5211C>T (ALOX15P1)
NM_001143838.2:c.1438-1316G>A (SLC13A5) NP_001137310.1:n.1438-1316G>A
NM_001284509.1:c.1399G>A (SLC13A5) NP_001271438.1:p.Gly467Ser
NM_001284510.1:c.1321G>A (SLC13A5) NP_001271439.1:p.Gly441Ser
NM_177550.4:c.1450G>A , LRG_1020t1:c.1450G>A (SLC13A5) NP_808218.1:p.Gly484Ser
XM_006721504.2:c.1339G>A (SLC13A5) XP_006721567.1:p.Gly447Ser
XM_011523795.3:c.*123G>A (SLC13A5) XP_011522097.1:n.*123G>A
NM_001143838.3:c.1438-1316G>A (SLC13A5) NP_001137310.1:n.1438-1316G>A
NM_001284509.2:c.1399G>A (SLC13A5) NP_001271438.1:p.Gly467Ser
NM_001284510.2:c.1321G>A (SLC13A5) NP_001271439.1:p.Gly441Ser
NM_177550.5:c.1450G>A (SLC13A5) MANE Select NP_808218.1:p.Gly484Ser