Canonical Allele Identifier: CA397750261

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6704048-A-G
• MyVariant Identifiers: chr17:g.6607367A>G (hg19) ; chr17:g.6704048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704048A>G , CM000679.2:g.6704048A>G	GRCh38
NC_000017.10:g.6607367A>G , CM000679.1:g.6607367A>G	GRCh37
NC_000017.9:g.6548091A>G	NCBI36
NG_034220.1:g.14374T>C , LRG_1020:g.14374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.377T>C MANE Select	ENSP00000406220.2:p.Leu126Pro
ENST00000293800.10:c.369-43T>C	ENSP00000293800.6:n.369-43T>C
ENST00000381074.8:c.248T>C	ENSP00000370464.4:p.Leu83Pro
ENST00000433363.6:c.377T>C	ENSP00000406220.2:p.Leu126Pro
ENST00000572094.1:c.*127T>C	ENSP00000461495.1:n.*127T>C
ENST00000572352.5:c.266T>C	ENSP00000461622.1:p.Leu89Pro
ENST00000573648.5:c.377T>C	ENSP00000459372.1:p.Leu126Pro
ENST00000574824.5:n.1510T>C
ENST00000575230.1:c.*223T>C	ENSP00000460903.1:n.*223T>C
ENST00000576323.1:n.407T>C
NM_001143838.2:c.377T>C	NP_001137310.1:p.Leu126Pro
NM_001284509.1:c.369-43T>C	NP_001271438.1:n.369-43T>C
NM_001284510.1:c.248T>C	NP_001271439.1:p.Leu83Pro
NM_177550.4:c.377T>C , LRG_1020t1:c.377T>C	NP_808218.1:p.Leu126Pro
XM_006721504.2:c.266T>C	XP_006721567.1:p.Leu89Pro
XM_011523795.1:c.377T>C	XP_011522097.1:p.Leu126Pro
XM_011523795.3:c.377T>C	XP_011522097.1:p.Leu126Pro
NM_001143838.3:c.377T>C	NP_001137310.1:p.Leu126Pro
NM_001284509.2:c.369-43T>C	NP_001271438.1:n.369-43T>C
NM_001284510.2:c.248T>C	NP_001271439.1:p.Leu83Pro
NM_177550.5:c.377T>C MANE Select	NP_808218.1:p.Leu126Pro