Canonical Allele Identifier: CA8331573

Gene: SLC13A5

Linked Data

• dbSNP Id: rs139972538
• ExAC: 17:6599193 G / T
• gnomAD v2: 17-6599193-G-T
• gnomAD v3: 17-6695874-G-T
• gnomAD v4: 17-6695874-G-T
• MyVariant Identifiers: chr17:g.6599193G>T (hg19) ; chr17:g.6695874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695874G>T , CM000679.2:g.6695874G>T	GRCh38
NC_000017.10:g.6599193G>T , CM000679.1:g.6599193G>T	GRCh37
NC_000017.9:g.6539917G>T	NCBI36
NG_034220.1:g.22548C>A , LRG_1020:g.22548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.907C>A MANE Select	ENSP00000406220.2:p.Gln303Lys
ENST00000293800.10:c.856C>A	ENSP00000293800.6:p.Gln286Lys
ENST00000381074.8:c.778C>A	ENSP00000370464.4:p.Gln260Lys
ENST00000433363.6:c.907C>A	ENSP00000406220.2:p.Gln303Lys
ENST00000572094.1:c.*657C>A	ENSP00000461495.1:n.*657C>A
ENST00000572727.1:n.16C>A
ENST00000573648.5:c.907C>A	ENSP00000459372.1:p.Gln303Lys
ENST00000574824.5:n.2040C>A
NM_001143838.2:c.907C>A	NP_001137310.1:p.Gln303Lys
NM_001284509.1:c.856C>A	NP_001271438.1:p.Gln286Lys
NM_001284510.1:c.778C>A	NP_001271439.1:p.Gln260Lys
NM_177550.4:c.907C>A , LRG_1020t1:c.907C>A	NP_808218.1:p.Gln303Lys
XM_006721504.2:c.796C>A	XP_006721567.1:p.Gln266Lys
XM_011523795.1:c.907C>A	XP_011522097.1:p.Gln303Lys
XM_011523795.3:c.907C>A	XP_011522097.1:p.Gln303Lys
NM_001143838.3:c.907C>A	NP_001137310.1:p.Gln303Lys
NM_001284509.2:c.856C>A	NP_001271438.1:p.Gln286Lys
NM_001284510.2:c.778C>A	NP_001271439.1:p.Gln260Lys
NM_177550.5:c.907C>A MANE Select	NP_808218.1:p.Gln303Lys