Canonical Allele Identifier: CA397738511

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• ClinVar Variation Id: 1372187
• ClinVar RCV Id: RCV001872795
• dbSNP Id: rs2150961873
• MyVariant Identifiers: chr17:g.6590985A>G (hg19) ; chr17:g.6687666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687666A>G , CM000679.2:g.6687666A>G	GRCh38
NC_000017.10:g.6590985A>G , CM000679.1:g.6590985A>G	GRCh37
NC_000017.9:g.6531709A>G	NCBI36
NG_034220.1:g.30756T>C , LRG_1020:g.30756T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1438T>C (SLC13A5) MANE Select	ENSP00000406220.2:p.Ser480Pro
ENST00000635042.1:n.725-5199A>G (C17orf100)
ENST00000293800.10:c.1387T>C (SLC13A5)	ENSP00000293800.6:p.Ser463Pro
ENST00000381074.8:c.1309T>C (SLC13A5)	ENSP00000370464.4:p.Ser437Pro
ENST00000433363.6:c.1438T>C (SLC13A5)	ENSP00000406220.2:p.Ser480Pro
ENST00000570687.1:c.107T>C (SLC13A5)
ENST00000573648.5:c.1438-1328T>C (SLC13A5)	ENSP00000459372.1:n.1438-1328T>C
ENST00000574580.2:n.2455T>C (SLC13A5)
ENST00000634558.1:n.511-2210A>G (ALOX15P1)
ENST00000634823.1:n.265-5199A>G (ALOX15P1)
NM_001143838.2:c.1438-1328T>C (SLC13A5)	NP_001137310.1:n.1438-1328T>C
NM_001284509.1:c.1387T>C (SLC13A5)	NP_001271438.1:p.Ser463Pro
NM_001284510.1:c.1309T>C (SLC13A5)	NP_001271439.1:p.Ser437Pro
NM_177550.4:c.1438T>C , LRG_1020t1:c.1438T>C (SLC13A5)	NP_808218.1:p.Ser480Pro
XM_006721504.2:c.1327T>C (SLC13A5)	XP_006721567.1:p.Ser443Pro
XM_011523795.3:c.*111T>C (SLC13A5)	XP_011522097.1:n.*111T>C
NM_001143838.3:c.1438-1328T>C (SLC13A5)	NP_001137310.1:n.1438-1328T>C
NM_001284509.2:c.1387T>C (SLC13A5)	NP_001271438.1:p.Ser463Pro
NM_001284510.2:c.1309T>C (SLC13A5)	NP_001271439.1:p.Ser437Pro
NM_177550.5:c.1438T>C (SLC13A5) MANE Select	NP_808218.1:p.Ser480Pro