Canonical Allele Identifier: CA397744117

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6695798-A-T
• MyVariant Identifiers: chr17:g.6599117A>T (hg19) ; chr17:g.6695798A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695798A>T , CM000679.2:g.6695798A>T	GRCh38
NC_000017.10:g.6599117A>T , CM000679.1:g.6599117A>T	GRCh37
NC_000017.9:g.6539841A>T	NCBI36
NG_034220.1:g.22624T>A , LRG_1020:g.22624T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.983T>A MANE Select	ENSP00000406220.2:p.Ile328Asn
ENST00000293800.10:c.932T>A	ENSP00000293800.6:p.Ile311Asn
ENST00000381074.8:c.854T>A	ENSP00000370464.4:p.Ile285Asn
ENST00000433363.6:c.983T>A	ENSP00000406220.2:p.Ile328Asn
ENST00000572727.1:n.92T>A
ENST00000573648.5:c.983T>A	ENSP00000459372.1:p.Ile328Asn
ENST00000574824.5:n.2116T>A
NM_001143838.2:c.983T>A	NP_001137310.1:p.Ile328Asn
NM_001284509.1:c.932T>A	NP_001271438.1:p.Ile311Asn
NM_001284510.1:c.854T>A	NP_001271439.1:p.Ile285Asn
NM_177550.4:c.983T>A , LRG_1020t1:c.983T>A	NP_808218.1:p.Ile328Asn
XM_006721504.2:c.872T>A	XP_006721567.1:p.Ile291Asn
XM_011523795.1:c.983T>A	XP_011522097.1:p.Ile328Asn
XM_011523795.3:c.983T>A	XP_011522097.1:p.Ile328Asn
NM_001143838.3:c.983T>A	NP_001137310.1:p.Ile328Asn
NM_001284509.2:c.932T>A	NP_001271438.1:p.Ile311Asn
NM_001284510.2:c.854T>A	NP_001271439.1:p.Ile285Asn
NM_177550.5:c.983T>A MANE Select	NP_808218.1:p.Ile328Asn