Canonical Allele Identifier: CA397738300

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• dbSNP Id: rs1747943174
• gnomAD v3: 17-6687611-G-A
• gnomAD v4: 17-6687611-G-A
• MyVariant Identifiers: chr17:g.6590930G>A (hg19) ; chr17:g.6687611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687611G>A , CM000679.2:g.6687611G>A	GRCh38
NC_000017.10:g.6590930G>A , CM000679.1:g.6590930G>A	GRCh37
NC_000017.9:g.6531654G>A	NCBI36
NG_034220.1:g.30811C>T , LRG_1020:g.30811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1493C>T (SLC13A5) MANE Select	ENSP00000406220.2:p.Ala498Val
ENST00000635042.1:n.725-5254G>A (C17orf100)
ENST00000293800.10:c.1442C>T (SLC13A5)	ENSP00000293800.6:p.Ala481Val
ENST00000381074.8:c.1364C>T (SLC13A5)	ENSP00000370464.4:p.Ala455Val
ENST00000433363.6:c.1493C>T (SLC13A5)	ENSP00000406220.2:p.Ala498Val
ENST00000570687.1:c.162C>T (SLC13A5)
ENST00000573648.5:c.1438-1273C>T (SLC13A5)	ENSP00000459372.1:n.1438-1273C>T
ENST00000574580.2:n.2510C>T (SLC13A5)
ENST00000634558.1:n.511-2265G>A (ALOX15P1)
ENST00000634823.1:n.265-5254G>A (ALOX15P1)
NM_001143838.2:c.1438-1273C>T (SLC13A5)	NP_001137310.1:n.1438-1273C>T
NM_001284509.1:c.1442C>T (SLC13A5)	NP_001271438.1:p.Ala481Val
NM_001284510.1:c.1364C>T (SLC13A5)	NP_001271439.1:p.Ala455Val
NM_177550.4:c.1493C>T , LRG_1020t1:c.1493C>T (SLC13A5)	NP_808218.1:p.Ala498Val
XM_006721504.2:c.1382C>T (SLC13A5)	XP_006721567.1:p.Ala461Val
XM_011523795.3:c.*166C>T (SLC13A5)	XP_011522097.1:n.*166C>T
NM_001143838.3:c.1438-1273C>T (SLC13A5)	NP_001137310.1:n.1438-1273C>T
NM_001284509.2:c.1442C>T (SLC13A5)	NP_001271438.1:p.Ala481Val
NM_001284510.2:c.1364C>T (SLC13A5)	NP_001271439.1:p.Ala455Val
NM_177550.5:c.1493C>T (SLC13A5) MANE Select	NP_808218.1:p.Ala498Val