Canonical Allele Identifier: CA397750098

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1992657
• ClinVar RCV Id: RCV002796084
• MyVariant Identifiers: chr17:g.6607290C>G (hg19) ; chr17:g.6703971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703971C>G , CM000679.2:g.6703971C>G	GRCh38
NC_000017.10:g.6607290C>G , CM000679.1:g.6607290C>G	GRCh37
NC_000017.9:g.6548014C>G	NCBI36
NG_034220.1:g.14451G>C , LRG_1020:g.14451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.454G>C MANE Select	ENSP00000406220.2:p.Val152Leu
ENST00000293800.10:c.403G>C	ENSP00000293800.6:p.Val135Leu
ENST00000381074.8:c.325G>C	ENSP00000370464.4:p.Val109Leu
ENST00000433363.6:c.454G>C	ENSP00000406220.2:p.Val152Leu
ENST00000572094.1:c.*204G>C	ENSP00000461495.1:n.*204G>C
ENST00000572352.5:c.343G>C	ENSP00000461622.1:p.Val115Leu
ENST00000573648.5:c.454G>C	ENSP00000459372.1:p.Val152Leu
ENST00000574824.5:n.1587G>C
ENST00000576323.1:n.484G>C
NM_001143838.2:c.454G>C	NP_001137310.1:p.Val152Leu
NM_001284509.1:c.403G>C	NP_001271438.1:p.Val135Leu
NM_001284510.1:c.325G>C	NP_001271439.1:p.Val109Leu
NM_177550.4:c.454G>C , LRG_1020t1:c.454G>C	NP_808218.1:p.Val152Leu
XM_006721504.2:c.343G>C	XP_006721567.1:p.Val115Leu
XM_011523795.1:c.454G>C	XP_011522097.1:p.Val152Leu
XM_011523795.3:c.454G>C	XP_011522097.1:p.Val152Leu
NM_001143838.3:c.454G>C	NP_001137310.1:p.Val152Leu
NM_001284509.2:c.403G>C	NP_001271438.1:p.Val135Leu
NM_001284510.2:c.325G>C	NP_001271439.1:p.Val109Leu
NM_177550.5:c.454G>C MANE Select	NP_808218.1:p.Val152Leu