Canonical Allele Identifier: CA397744096

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6599114A>C (hg19) ; chr17:g.6695795A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695795A>C , CM000679.2:g.6695795A>C	GRCh38
NC_000017.10:g.6599114A>C , CM000679.1:g.6599114A>C	GRCh37
NC_000017.9:g.6539838A>C	NCBI36
NG_034220.1:g.22627T>G , LRG_1020:g.22627T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.986T>G MANE Select	ENSP00000406220.2:p.Leu329Arg
ENST00000293800.10:c.935T>G	ENSP00000293800.6:p.Leu312Arg
ENST00000381074.8:c.857T>G	ENSP00000370464.4:p.Leu286Arg
ENST00000433363.6:c.986T>G	ENSP00000406220.2:p.Leu329Arg
ENST00000572727.1:n.95T>G
ENST00000573648.5:c.986T>G	ENSP00000459372.1:p.Leu329Arg
ENST00000574824.5:n.2119T>G
NM_001143838.2:c.986T>G	NP_001137310.1:p.Leu329Arg
NM_001284509.1:c.935T>G	NP_001271438.1:p.Leu312Arg
NM_001284510.1:c.857T>G	NP_001271439.1:p.Leu286Arg
NM_177550.4:c.986T>G , LRG_1020t1:c.986T>G	NP_808218.1:p.Leu329Arg
XM_006721504.2:c.875T>G	XP_006721567.1:p.Leu292Arg
XM_011523795.1:c.986T>G	XP_011522097.1:p.Leu329Arg
XM_011523795.3:c.986T>G	XP_011522097.1:p.Leu329Arg
NM_001143838.3:c.986T>G	NP_001137310.1:p.Leu329Arg
NM_001284509.2:c.935T>G	NP_001271438.1:p.Leu312Arg
NM_001284510.2:c.857T>G	NP_001271439.1:p.Leu286Arg
NM_177550.5:c.986T>G MANE Select	NP_808218.1:p.Leu329Arg