Canonical Allele Identifier: CA397748856

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6606335G>T (hg19) ; chr17:g.6703016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703016G>T , CM000679.2:g.6703016G>T	GRCh38
NC_000017.10:g.6606335G>T , CM000679.1:g.6606335G>T	GRCh37
NC_000017.9:g.6547059G>T	NCBI36
NG_034220.1:g.15406C>A , LRG_1020:g.15406C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.670C>A MANE Select	ENSP00000406220.2:p.Leu224Met
ENST00000293800.10:c.619C>A	ENSP00000293800.6:p.Leu207Met
ENST00000381074.8:c.541C>A	ENSP00000370464.4:p.Leu181Met
ENST00000433363.6:c.670C>A	ENSP00000406220.2:p.Leu224Met
ENST00000572094.1:c.*420C>A	ENSP00000461495.1:n.*420C>A
ENST00000573648.5:c.670C>A	ENSP00000459372.1:p.Leu224Met
ENST00000574824.5:n.1803C>A
NM_001143838.2:c.670C>A	NP_001137310.1:p.Leu224Met
NM_001284509.1:c.619C>A	NP_001271438.1:p.Leu207Met
NM_001284510.1:c.541C>A	NP_001271439.1:p.Leu181Met
NM_177550.4:c.670C>A , LRG_1020t1:c.670C>A	NP_808218.1:p.Leu224Met
XM_006721504.2:c.559C>A	XP_006721567.1:p.Leu187Met
XM_011523795.1:c.670C>A	XP_011522097.1:p.Leu224Met
XM_011523795.3:c.670C>A	XP_011522097.1:p.Leu224Met
NM_001143838.3:c.670C>A	NP_001137310.1:p.Leu224Met
NM_001284509.2:c.619C>A	NP_001271438.1:p.Leu207Met
NM_001284510.2:c.541C>A	NP_001271439.1:p.Leu181Met
NM_177550.5:c.670C>A MANE Select	NP_808218.1:p.Leu224Met