Canonical Allele Identifier: CA397738477

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• ClinVar Variation Id: 958142
• ClinVar RCV Id: RCV001231253
• dbSNP Id: rs1236635295
• gnomAD v2: 17-6590978-G-A
• gnomAD v4: 17-6687659-G-A
• MyVariant Identifiers: chr17:g.6590978G>A (hg19) ; chr17:g.6687659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687659G>A , CM000679.2:g.6687659G>A	GRCh38
NC_000017.10:g.6590978G>A , CM000679.1:g.6590978G>A	GRCh37
NC_000017.9:g.6531702G>A	NCBI36
NG_034220.1:g.30763C>T , LRG_1020:g.30763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1445C>T (SLC13A5) MANE Select	ENSP00000406220.2:p.Ser482Phe
ENST00000635042.1:n.725-5206G>A (C17orf100)
ENST00000293800.10:c.1394C>T (SLC13A5)	ENSP00000293800.6:p.Ser465Phe
ENST00000381074.8:c.1316C>T (SLC13A5)	ENSP00000370464.4:p.Ser439Phe
ENST00000433363.6:c.1445C>T (SLC13A5)	ENSP00000406220.2:p.Ser482Phe
ENST00000570687.1:c.114C>T (SLC13A5)
ENST00000573648.5:c.1438-1321C>T (SLC13A5)	ENSP00000459372.1:n.1438-1321C>T
ENST00000574580.2:n.2462C>T (SLC13A5)
ENST00000634558.1:n.511-2217G>A (ALOX15P1)
ENST00000634823.1:n.265-5206G>A (ALOX15P1)
NM_001143838.2:c.1438-1321C>T (SLC13A5)	NP_001137310.1:n.1438-1321C>T
NM_001284509.1:c.1394C>T (SLC13A5)	NP_001271438.1:p.Ser465Phe
NM_001284510.1:c.1316C>T (SLC13A5)	NP_001271439.1:p.Ser439Phe
NM_177550.4:c.1445C>T , LRG_1020t1:c.1445C>T (SLC13A5)	NP_808218.1:p.Ser482Phe
XM_006721504.2:c.1334C>T (SLC13A5)	XP_006721567.1:p.Ser445Phe
XM_011523795.3:c.*118C>T (SLC13A5)	XP_011522097.1:n.*118C>T
NM_001143838.3:c.1438-1321C>T (SLC13A5)	NP_001137310.1:n.1438-1321C>T
NM_001284509.2:c.1394C>T (SLC13A5)	NP_001271438.1:p.Ser465Phe
NM_001284510.2:c.1316C>T (SLC13A5)	NP_001271439.1:p.Ser439Phe
NM_177550.5:c.1445C>T (SLC13A5) MANE Select	NP_808218.1:p.Ser482Phe