Canonical Allele Identifier: CA497595777

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• gnomAD v4: 17-6687628-C-A
• MyVariant Identifiers: chr17:g.6590947C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687628C>A , CM000679.2:g.6687628C>A	GRCh38
NC_000017.10:g.6590947C>A , CM000679.1:g.6590947C>A	GRCh37
NC_000017.9:g.6531671C>A	NCBI36
NG_034220.1:g.30794G>T , LRG_1020:g.30794G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1476G>T (SLC13A5) MANE Select	ENSP00000406220.2:p.Leu492=
ENST00000635042.1:n.725-5237C>A (C17orf100)
ENST00000293800.10:c.1425G>T (SLC13A5)	ENSP00000293800.6:p.Leu475=
ENST00000381074.8:c.1347G>T (SLC13A5)	ENSP00000370464.4:p.Leu449=
ENST00000433363.6:c.1476G>T (SLC13A5)	ENSP00000406220.2:p.Leu492=
ENST00000570687.1:c.145G>T (SLC13A5)
ENST00000573648.5:c.1438-1290G>T (SLC13A5)	ENSP00000459372.1:n.1438-1290G>T
ENST00000574580.2:n.2493G>T (SLC13A5)
ENST00000634558.1:n.511-2248C>A (ALOX15P1)
ENST00000634823.1:n.265-5237C>A (ALOX15P1)
NM_001143838.2:c.1438-1290G>T (SLC13A5)	NP_001137310.1:n.1438-1290G>T
NM_001284509.1:c.1425G>T (SLC13A5)	NP_001271438.1:p.Leu475=
NM_001284510.1:c.1347G>T (SLC13A5)	NP_001271439.1:p.Leu449=
NM_177550.4:c.1476G>T , LRG_1020t1:c.1476G>T (SLC13A5)	NP_808218.1:p.Leu492=
XM_006721504.2:c.1365G>T (SLC13A5)	XP_006721567.1:p.Leu455=
XM_011523795.3:c.*149G>T (SLC13A5)	XP_011522097.1:n.*149G>T
NM_001143838.3:c.1438-1290G>T (SLC13A5)	NP_001137310.1:n.1438-1290G>T
NM_001284509.2:c.1425G>T (SLC13A5)	NP_001271438.1:p.Leu475=
NM_001284510.2:c.1347G>T (SLC13A5)	NP_001271439.1:p.Leu449=
NM_177550.5:c.1476G>T (SLC13A5) MANE Select	NP_808218.1:p.Leu492=