Canonical Allele Identifier: CA287381694

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• ClinVar Variation Id: 677509
• ClinVar RCV Id: RCV000837065
• dbSNP Id: rs78203589
• gnomAD v2: 17-6591041-C-T
• gnomAD v3: 17-6687722-C-T
• gnomAD v4: 17-6687722-C-T
• MyVariant Identifiers: chr17:g.6591041C>T (hg19) ; chr17:g.6687722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687722C>T , CM000679.2:g.6687722C>T	GRCh38
NC_000017.10:g.6591041C>T , CM000679.1:g.6591041C>T	GRCh37
NC_000017.9:g.6531765C>T	NCBI36
NG_034220.1:g.30700G>A , LRG_1020:g.30700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1438-56G>A (SLC13A5) MANE Select	ENSP00000406220.2:n.1438-56G>A
ENST00000635042.1:n.725-5143C>T (C17orf100)
ENST00000293800.10:c.1387-56G>A (SLC13A5)	ENSP00000293800.6:n.1387-56G>A
ENST00000381074.8:c.1309-56G>A (SLC13A5)	ENSP00000370464.4:n.1309-56G>A
ENST00000433363.6:c.1438-56G>A (SLC13A5)	ENSP00000406220.2:n.1438-56G>A
ENST00000570687.1:c.107-56G>A (SLC13A5)
ENST00000573648.5:c.1438-1384G>A (SLC13A5)	ENSP00000459372.1:n.1438-1384G>A
ENST00000574580.2:n.2399G>A (SLC13A5)
ENST00000634558.1:n.511-2154C>T (ALOX15P1)
ENST00000634823.1:n.265-5143C>T (ALOX15P1)
NM_001143838.2:c.1438-1384G>A (SLC13A5)	NP_001137310.1:n.1438-1384G>A
NM_001284509.1:c.1387-56G>A (SLC13A5)	NP_001271438.1:n.1387-56G>A
NM_001284510.1:c.1309-56G>A (SLC13A5)	NP_001271439.1:n.1309-56G>A
NM_177550.4:c.1438-56G>A , LRG_1020t1:c.1438-56G>A (SLC13A5)	NP_808218.1:n.1438-56G>A
XM_006721504.2:c.1327-56G>A (SLC13A5)	XP_006721567.1:n.1327-56G>A
XM_011523795.1:c.*55G>A (SLC13A5)	XP_011522097.1:n.*55G>A
XM_011523795.3:c.*55G>A (SLC13A5)	XP_011522097.1:n.*55G>A
NM_001143838.3:c.1438-1384G>A (SLC13A5)	NP_001137310.1:n.1438-1384G>A
NM_001284509.2:c.1387-56G>A (SLC13A5)	NP_001271438.1:n.1387-56G>A
NM_001284510.2:c.1309-56G>A (SLC13A5)	NP_001271439.1:n.1309-56G>A
NM_177550.5:c.1438-56G>A (SLC13A5) MANE Select	NP_808218.1:n.1438-56G>A