Canonical Allele Identifier: CA397749970

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6703911-G-C
• MyVariant Identifiers: chr17:g.6607230G>C (hg19) ; chr17:g.6703911G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703911G>C , CM000679.2:g.6703911G>C	GRCh38
NC_000017.10:g.6607230G>C , CM000679.1:g.6607230G>C	GRCh37
NC_000017.9:g.6547954G>C	NCBI36
NG_034220.1:g.14511C>G , LRG_1020:g.14511C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.514C>G MANE Select	ENSP00000406220.2:p.Leu172Val
ENST00000293800.10:c.463C>G	ENSP00000293800.6:p.Leu155Val
ENST00000381074.8:c.385C>G	ENSP00000370464.4:p.Leu129Val
ENST00000433363.6:c.514C>G	ENSP00000406220.2:p.Leu172Val
ENST00000572094.1:c.*264C>G	ENSP00000461495.1:n.*264C>G
ENST00000572352.5:c.403C>G	ENSP00000461622.1:p.Leu135Val
ENST00000573648.5:c.514C>G	ENSP00000459372.1:p.Leu172Val
ENST00000574824.5:n.1647C>G
ENST00000576323.1:n.544C>G
NM_001143838.2:c.514C>G	NP_001137310.1:p.Leu172Val
NM_001284509.1:c.463C>G	NP_001271438.1:p.Leu155Val
NM_001284510.1:c.385C>G	NP_001271439.1:p.Leu129Val
NM_177550.4:c.514C>G , LRG_1020t1:c.514C>G	NP_808218.1:p.Leu172Val
XM_006721504.2:c.403C>G	XP_006721567.1:p.Leu135Val
XM_011523795.1:c.514C>G	XP_011522097.1:p.Leu172Val
XM_011523795.3:c.514C>G	XP_011522097.1:p.Leu172Val
NM_001143838.3:c.514C>G	NP_001137310.1:p.Leu172Val
NM_001284509.2:c.463C>G	NP_001271438.1:p.Leu155Val
NM_001284510.2:c.385C>G	NP_001271439.1:p.Leu129Val
NM_177550.5:c.514C>G MANE Select	NP_808218.1:p.Leu172Val