Canonical Allele Identifier: CA2635724430

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• gnomAD v4: 17-6687830-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687830C>A , CM000679.2:g.6687830C>A	GRCh38
NC_000017.10:g.6591149C>A , CM000679.1:g.6591149C>A	GRCh37
NC_000017.9:g.6531873C>A	NCBI36
NG_034220.1:g.30592G>T , LRG_1020:g.30592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1438-164G>T (SLC13A5) MANE Select	ENSP00000406220.2:n.1438-164G>T
ENST00000635042.1:n.725-5035C>A (C17orf100)
ENST00000293800.10:c.1387-164G>T (SLC13A5)	ENSP00000293800.6:n.1387-164G>T
ENST00000381074.8:c.1309-164G>T (SLC13A5)	ENSP00000370464.4:n.1309-164G>T
ENST00000433363.6:c.1438-164G>T (SLC13A5)	ENSP00000406220.2:n.1438-164G>T
ENST00000570687.1:c.107-164G>T (SLC13A5)
ENST00000573648.5:c.1438-1492G>T (SLC13A5)	ENSP00000459372.1:n.1438-1492G>T
ENST00000574580.2:n.2291G>T (SLC13A5)
ENST00000634558.1:n.511-2046C>A (ALOX15P1)
ENST00000634823.1:n.265-5035C>A (ALOX15P1)
NM_001143838.2:c.1438-1492G>T (SLC13A5)	NP_001137310.1:n.1438-1492G>T
NM_001284509.1:c.1387-164G>T (SLC13A5)	NP_001271438.1:n.1387-164G>T
NM_001284510.1:c.1309-164G>T (SLC13A5)	NP_001271439.1:n.1309-164G>T
NM_177550.4:c.1438-164G>T , LRG_1020t1:c.1438-164G>T (SLC13A5)	NP_808218.1:n.1438-164G>T
XM_006721504.2:c.1327-164G>T (SLC13A5)	XP_006721567.1:n.1327-164G>T
XM_011523795.1:c.1444G>T (SLC13A5)	XP_011522097.1:p.Val482Leu
XM_011523795.3:c.1444G>T (SLC13A5)	XP_011522097.1:p.Val482Leu
NM_001143838.3:c.1438-1492G>T (SLC13A5)	NP_001137310.1:n.1438-1492G>T
NM_001284509.2:c.1387-164G>T (SLC13A5)	NP_001271438.1:n.1387-164G>T
NM_001284510.2:c.1309-164G>T (SLC13A5)	NP_001271439.1:n.1309-164G>T
NM_177550.5:c.1438-164G>T (SLC13A5) MANE Select	NP_808218.1:n.1438-164G>T