Canonical Allele Identifier: CA397750066

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6703956-G-A
• MyVariant Identifiers: chr17:g.6607275G>A (hg19) ; chr17:g.6703956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703956G>A , CM000679.2:g.6703956G>A	GRCh38
NC_000017.10:g.6607275G>A , CM000679.1:g.6607275G>A	GRCh37
NC_000017.9:g.6547999G>A	NCBI36
NG_034220.1:g.14466C>T , LRG_1020:g.14466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.469C>T MANE Select	ENSP00000406220.2:p.Gln157Ter
ENST00000293800.10:c.418C>T	ENSP00000293800.6:p.Gln140Ter
ENST00000381074.8:c.340C>T	ENSP00000370464.4:p.Gln114Ter
ENST00000433363.6:c.469C>T	ENSP00000406220.2:p.Gln157Ter
ENST00000572094.1:c.*219C>T	ENSP00000461495.1:n.*219C>T
ENST00000572352.5:c.358C>T	ENSP00000461622.1:p.Gln120Ter
ENST00000573648.5:c.469C>T	ENSP00000459372.1:p.Gln157Ter
ENST00000574824.5:n.1602C>T
ENST00000576323.1:n.499C>T
NM_001143838.2:c.469C>T	NP_001137310.1:p.Gln157Ter
NM_001284509.1:c.418C>T	NP_001271438.1:p.Gln140Ter
NM_001284510.1:c.340C>T	NP_001271439.1:p.Gln114Ter
NM_177550.4:c.469C>T , LRG_1020t1:c.469C>T	NP_808218.1:p.Gln157Ter
XM_006721504.2:c.358C>T	XP_006721567.1:p.Gln120Ter
XM_011523795.1:c.469C>T	XP_011522097.1:p.Gln157Ter
XM_011523795.3:c.469C>T	XP_011522097.1:p.Gln157Ter
NM_001143838.3:c.469C>T	NP_001137310.1:p.Gln157Ter
NM_001284509.2:c.418C>T	NP_001271438.1:p.Gln140Ter
NM_001284510.2:c.340C>T	NP_001271439.1:p.Gln114Ter
NM_177550.5:c.469C>T MANE Select	NP_808218.1:p.Gln157Ter