Canonical Allele Identifier: CA497595692

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• dbSNP Id: rs1217287332
• gnomAD v2: 17-6590869-C-G
• gnomAD v4: 17-6687550-C-G
• MyVariant Identifiers: chr17:g.6590869C>G (hg19) ; chr17:g.6687550C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687550C>G , CM000679.2:g.6687550C>G	GRCh38
NC_000017.10:g.6590869C>G , CM000679.1:g.6590869C>G	GRCh37
NC_000017.9:g.6531593C>G	NCBI36
NG_034220.1:g.30872G>C , LRG_1020:g.30872G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1554G>C (SLC13A5) MANE Select	ENSP00000406220.2:p.Gly518=
ENST00000635042.1:n.725-5315C>G (C17orf100)
ENST00000293800.10:c.1503G>C (SLC13A5)	ENSP00000293800.6:p.Gly501=
ENST00000381074.8:c.1425G>C (SLC13A5)	ENSP00000370464.4:p.Gly475=
ENST00000433363.6:c.1554G>C (SLC13A5)	ENSP00000406220.2:p.Gly518=
ENST00000570687.1:c.223G>C (SLC13A5)
ENST00000573648.5:c.1438-1212G>C (SLC13A5)	ENSP00000459372.1:n.1438-1212G>C
ENST00000574580.2:n.2571G>C (SLC13A5)
ENST00000634558.1:n.511-2326C>G (ALOX15P1)
ENST00000634823.1:n.265-5315C>G (ALOX15P1)
NM_001143838.2:c.1438-1212G>C (SLC13A5)	NP_001137310.1:n.1438-1212G>C
NM_001284509.1:c.1503G>C (SLC13A5)	NP_001271438.1:p.Gly501=
NM_001284510.1:c.1425G>C (SLC13A5)	NP_001271439.1:p.Gly475=
NM_177550.4:c.1554G>C , LRG_1020t1:c.1554G>C (SLC13A5)	NP_808218.1:p.Gly518=
XM_006721504.2:c.1443G>C (SLC13A5)	XP_006721567.1:p.Gly481=
XM_011523795.3:c.*227G>C (SLC13A5)	XP_011522097.1:n.*227G>C
NM_001143838.3:c.1438-1212G>C (SLC13A5)	NP_001137310.1:n.1438-1212G>C
NM_001284509.2:c.1503G>C (SLC13A5)	NP_001271438.1:p.Gly501=
NM_001284510.2:c.1425G>C (SLC13A5)	NP_001271439.1:p.Gly475=
NM_177550.5:c.1554G>C (SLC13A5) MANE Select	NP_808218.1:p.Gly518=