Canonical Allele Identifier: CA8331715

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 475197
• ClinVar RCV Id: RCV000556517 ; RCV001252851 ; RCV001764623
• dbSNP Id: rs764711084
• ExAC: 17:6607303 C / T
• gnomAD v2: 17-6607303-C-T
• gnomAD v3: 17-6703984-C-T
• gnomAD v4: 17-6703984-C-T
• MyVariant Identifiers: chr17:g.6607303C>T (hg19) ; chr17:g.6703984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703984C>T , CM000679.2:g.6703984C>T	GRCh38
NC_000017.10:g.6607303C>T , CM000679.1:g.6607303C>T	GRCh37
NC_000017.9:g.6548027C>T	NCBI36
NG_034220.1:g.14438G>A , LRG_1020:g.14438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.441G>A MANE Select	ENSP00000406220.2:p.Met147Ile
ENST00000293800.10:c.390G>A	ENSP00000293800.6:p.Met130Ile
ENST00000381074.8:c.312G>A	ENSP00000370464.4:p.Met104Ile
ENST00000433363.6:c.441G>A	ENSP00000406220.2:p.Met147Ile
ENST00000572094.1:c.*191G>A	ENSP00000461495.1:n.*191G>A
ENST00000572352.5:c.330G>A	ENSP00000461622.1:p.Met110Ile
ENST00000573648.5:c.441G>A	ENSP00000459372.1:p.Met147Ile
ENST00000574824.5:n.1574G>A
ENST00000576323.1:n.471G>A
NM_001143838.2:c.441G>A	NP_001137310.1:p.Met147Ile
NM_001284509.1:c.390G>A	NP_001271438.1:p.Met130Ile
NM_001284510.1:c.312G>A	NP_001271439.1:p.Met104Ile
NM_177550.4:c.441G>A , LRG_1020t1:c.441G>A	NP_808218.1:p.Met147Ile
XM_006721504.2:c.330G>A	XP_006721567.1:p.Met110Ile
XM_011523795.1:c.441G>A	XP_011522097.1:p.Met147Ile
XM_011523795.3:c.441G>A	XP_011522097.1:p.Met147Ile
NM_001143838.3:c.441G>A	NP_001137310.1:p.Met147Ile
NM_001284509.2:c.390G>A	NP_001271438.1:p.Met130Ile
NM_001284510.2:c.312G>A	NP_001271439.1:p.Met104Ile
NM_177550.5:c.441G>A MANE Select	NP_808218.1:p.Met147Ile