Canonical Allele Identifier: CA8331560

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 429897
• ClinVar RCV Id: RCV000493347 ; RCV001219982 ; RCV003372731
• dbSNP Id: rs142301014
• ExAC: 17:6599109 A / T
• gnomAD v2: 17-6599109-A-T
• gnomAD v3: 17-6695790-A-T
• gnomAD v4: 17-6695790-A-T
• MyVariant Identifiers: chr17:g.6599109A>T (hg19) ; chr17:g.6695790A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695790A>T , CM000679.2:g.6695790A>T	GRCh38
NC_000017.10:g.6599109A>T , CM000679.1:g.6599109A>T	GRCh37
NC_000017.9:g.6539833A>T	NCBI36
NG_034220.1:g.22632T>A , LRG_1020:g.22632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.991T>A MANE Select	ENSP00000406220.2:p.Phe331Ile
ENST00000293800.10:c.940T>A	ENSP00000293800.6:p.Phe314Ile
ENST00000381074.8:c.862T>A	ENSP00000370464.4:p.Phe288Ile
ENST00000433363.6:c.991T>A	ENSP00000406220.2:p.Phe331Ile
ENST00000572727.1:n.100T>A
ENST00000573648.5:c.991T>A	ENSP00000459372.1:p.Phe331Ile
ENST00000574824.5:n.2124T>A
NM_001143838.2:c.991T>A	NP_001137310.1:p.Phe331Ile
NM_001284509.1:c.940T>A	NP_001271438.1:p.Phe314Ile
NM_001284510.1:c.862T>A	NP_001271439.1:p.Phe288Ile
NM_177550.4:c.991T>A , LRG_1020t1:c.991T>A	NP_808218.1:p.Phe331Ile
XM_006721504.2:c.880T>A	XP_006721567.1:p.Phe294Ile
XM_011523795.1:c.991T>A	XP_011522097.1:p.Phe331Ile
XM_011523795.3:c.991T>A	XP_011522097.1:p.Phe331Ile
NM_001143838.3:c.991T>A	NP_001137310.1:p.Phe331Ile
NM_001284509.2:c.940T>A	NP_001271438.1:p.Phe314Ile
NM_001284510.2:c.862T>A	NP_001271439.1:p.Phe288Ile
NM_177550.5:c.991T>A MANE Select	NP_808218.1:p.Phe331Ile