Canonical Allele Identifier: CA8331348

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• ClinVar Variation Id: 1038094
• ClinVar RCV Id: RCV001341355
• dbSNP Id: rs201089077
• ExAC: 17:6590883 C / T
• gnomAD v2: 17-6590883-C-T
• gnomAD v3: 17-6687564-C-T
• gnomAD v4: 17-6687564-C-T
• MyVariant Identifiers: chr17:g.6590883C>T (hg19) ; chr17:g.6687564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687564C>T , CM000679.2:g.6687564C>T	GRCh38
NC_000017.10:g.6590883C>T , CM000679.1:g.6590883C>T	GRCh37
NC_000017.9:g.6531607C>T	NCBI36
NG_034220.1:g.30858G>A , LRG_1020:g.30858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1540G>A (SLC13A5) MANE Select	ENSP00000406220.2:p.Val514Met
ENST00000635042.1:n.725-5301C>T (C17orf100)
ENST00000293800.10:c.1489G>A (SLC13A5)	ENSP00000293800.6:p.Val497Met
ENST00000381074.8:c.1411G>A (SLC13A5)	ENSP00000370464.4:p.Val471Met
ENST00000433363.6:c.1540G>A (SLC13A5)	ENSP00000406220.2:p.Val514Met
ENST00000570687.1:c.209G>A (SLC13A5)
ENST00000573648.5:c.1438-1226G>A (SLC13A5)	ENSP00000459372.1:n.1438-1226G>A
ENST00000574580.2:n.2557G>A (SLC13A5)
ENST00000634558.1:n.511-2312C>T (ALOX15P1)
ENST00000634823.1:n.265-5301C>T (ALOX15P1)
NM_001143838.2:c.1438-1226G>A (SLC13A5)	NP_001137310.1:n.1438-1226G>A
NM_001284509.1:c.1489G>A (SLC13A5)	NP_001271438.1:p.Val497Met
NM_001284510.1:c.1411G>A (SLC13A5)	NP_001271439.1:p.Val471Met
NM_177550.4:c.1540G>A , LRG_1020t1:c.1540G>A (SLC13A5)	NP_808218.1:p.Val514Met
XM_006721504.2:c.1429G>A (SLC13A5)	XP_006721567.1:p.Val477Met
XM_011523795.3:c.*213G>A (SLC13A5)	XP_011522097.1:n.*213G>A
NM_001143838.3:c.1438-1226G>A (SLC13A5)	NP_001137310.1:n.1438-1226G>A
NM_001284509.2:c.1489G>A (SLC13A5)	NP_001271438.1:p.Val497Met
NM_001284510.2:c.1411G>A (SLC13A5)	NP_001271439.1:p.Val471Met
NM_177550.5:c.1540G>A (SLC13A5) MANE Select	NP_808218.1:p.Val514Met