Canonical Allele Identifier: CA397744798

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6599214T>C (hg19) ; chr17:g.6695895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695895T>C , CM000679.2:g.6695895T>C	GRCh38
NC_000017.10:g.6599214T>C , CM000679.1:g.6599214T>C	GRCh37
NC_000017.9:g.6539938T>C	NCBI36
NG_034220.1:g.22527A>G , LRG_1020:g.22527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.886A>G MANE Select	ENSP00000406220.2:p.Lys296Glu
ENST00000293800.10:c.835A>G	ENSP00000293800.6:p.Lys279Glu
ENST00000381074.8:c.757A>G	ENSP00000370464.4:p.Lys253Glu
ENST00000433363.6:c.886A>G	ENSP00000406220.2:p.Lys296Glu
ENST00000572094.1:c.*636A>G	ENSP00000461495.1:n.*636A>G
ENST00000573648.5:c.886A>G	ENSP00000459372.1:p.Lys296Glu
ENST00000574824.5:n.2019A>G
NM_001143838.2:c.886A>G	NP_001137310.1:p.Lys296Glu
NM_001284509.1:c.835A>G	NP_001271438.1:p.Lys279Glu
NM_001284510.1:c.757A>G	NP_001271439.1:p.Lys253Glu
NM_177550.4:c.886A>G , LRG_1020t1:c.886A>G	NP_808218.1:p.Lys296Glu
XM_006721504.2:c.775A>G	XP_006721567.1:p.Lys259Glu
XM_011523795.1:c.886A>G	XP_011522097.1:p.Lys296Glu
XM_011523795.3:c.886A>G	XP_011522097.1:p.Lys296Glu
NM_001143838.3:c.886A>G	NP_001137310.1:p.Lys296Glu
NM_001284509.2:c.835A>G	NP_001271438.1:p.Lys279Glu
NM_001284510.2:c.757A>G	NP_001271439.1:p.Lys253Glu
NM_177550.5:c.886A>G MANE Select	NP_808218.1:p.Lys296Glu