Canonical Allele Identifier: CA397750185

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 2030414
• ClinVar RCV Id: RCV002871768
• MyVariant Identifiers: chr17:g.6607330C>T (hg19) ; chr17:g.6704011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704011C>T , CM000679.2:g.6704011C>T	GRCh38
NC_000017.10:g.6607330C>T , CM000679.1:g.6607330C>T	GRCh37
NC_000017.9:g.6548054C>T	NCBI36
NG_034220.1:g.14411G>A , LRG_1020:g.14411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.414G>A MANE Select	ENSP00000406220.2:p.Trp138Ter
ENST00000293800.10:c.369-6G>A	ENSP00000293800.6:n.369-6G>A
ENST00000381074.8:c.285G>A	ENSP00000370464.4:p.Trp95Ter
ENST00000433363.6:c.414G>A	ENSP00000406220.2:p.Trp138Ter
ENST00000572094.1:c.*164G>A	ENSP00000461495.1:n.*164G>A
ENST00000572352.5:c.303G>A	ENSP00000461622.1:p.Trp101Ter
ENST00000573648.5:c.414G>A	ENSP00000459372.1:p.Trp138Ter
ENST00000574824.5:n.1547G>A
ENST00000576323.1:n.444G>A
NM_001143838.2:c.414G>A	NP_001137310.1:p.Trp138Ter
NM_001284509.1:c.369-6G>A	NP_001271438.1:n.369-6G>A
NM_001284510.1:c.285G>A	NP_001271439.1:p.Trp95Ter
NM_177550.4:c.414G>A , LRG_1020t1:c.414G>A	NP_808218.1:p.Trp138Ter
XM_006721504.2:c.303G>A	XP_006721567.1:p.Trp101Ter
XM_011523795.1:c.414G>A	XP_011522097.1:p.Trp138Ter
XM_011523795.3:c.414G>A	XP_011522097.1:p.Trp138Ter
NM_001143838.3:c.414G>A	NP_001137310.1:p.Trp138Ter
NM_001284509.2:c.369-6G>A	NP_001271438.1:n.369-6G>A
NM_001284510.2:c.285G>A	NP_001271439.1:p.Trp95Ter
NM_177550.5:c.414G>A MANE Select	NP_808218.1:p.Trp138Ter