Canonical Allele Identifier: CA397736781

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• ClinVar Variation Id: 842888
• ClinVar RCV Id: RCV001045389
• dbSNP Id: rs1973247421
• MyVariant Identifiers: chr17:g.6589546C>T (hg19) ; chr17:g.6686227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6686227C>T , CM000679.2:g.6686227C>T	GRCh38
NC_000017.10:g.6589546C>T , CM000679.1:g.6589546C>T	GRCh37
NC_000017.9:g.6530270C>T	NCBI36
NG_034220.1:g.32195G>A , LRG_1020:g.32195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1687G>A (SLC13A5) MANE Select	ENSP00000406220.2:p.Val563Met
ENST00000635042.1:n.725-6638C>T (C17orf100)
ENST00000293800.10:c.1636G>A (SLC13A5)	ENSP00000293800.6:p.Val546Met
ENST00000381074.8:c.1558G>A (SLC13A5)	ENSP00000370464.4:p.Val520Met
ENST00000433363.6:c.1687G>A (SLC13A5)	ENSP00000406220.2:p.Val563Met
ENST00000573648.5:c.1549G>A (SLC13A5)	ENSP00000459372.1:p.Val517Met
ENST00000574580.2:n.3894G>A (SLC13A5)
ENST00000634558.1:n.511-3649C>T (ALOX15P1)
ENST00000634823.1:n.265-6638C>T (ALOX15P1)
NM_001143838.2:c.1549G>A (SLC13A5)	NP_001137310.1:p.Val517Met
NM_001284509.1:c.1636G>A (SLC13A5)	NP_001271438.1:p.Val546Met
NM_001284510.1:c.1558G>A (SLC13A5)	NP_001271439.1:p.Val520Met
NM_177550.4:c.1687G>A , LRG_1020t1:c.1687G>A (SLC13A5)	NP_808218.1:p.Val563Met
XM_006721504.2:c.1576G>A (SLC13A5)	XP_006721567.1:p.Val526Met
NM_001143838.3:c.1549G>A (SLC13A5)	NP_001137310.1:p.Val517Met
NM_001284509.2:c.1636G>A (SLC13A5)	NP_001271438.1:p.Val546Met
NM_001284510.2:c.1558G>A (SLC13A5)	NP_001271439.1:p.Val520Met
NM_177550.5:c.1687G>A (SLC13A5) MANE Select	NP_808218.1:p.Val563Met