Canonical Allele Identifier: CA497596335

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 2135139
• ClinVar RCV Id: RCV003066134
• dbSNP Id: rs1973547281
• MyVariant Identifiers: chr17:g.6599197C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695878C>T , CM000679.2:g.6695878C>T	GRCh38
NC_000017.10:g.6599197C>T , CM000679.1:g.6599197C>T	GRCh37
NC_000017.9:g.6539921C>T	NCBI36
NG_034220.1:g.22544G>A , LRG_1020:g.22544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.903G>A MANE Select	ENSP00000406220.2:p.Val301=
ENST00000293800.10:c.852G>A	ENSP00000293800.6:p.Val284=
ENST00000381074.8:c.774G>A	ENSP00000370464.4:p.Val258=
ENST00000433363.6:c.903G>A	ENSP00000406220.2:p.Val301=
ENST00000572094.1:c.*653G>A	ENSP00000461495.1:n.*653G>A
ENST00000572727.1:n.12G>A
ENST00000573648.5:c.903G>A	ENSP00000459372.1:p.Val301=
ENST00000574824.5:n.2036G>A
NM_001143838.2:c.903G>A	NP_001137310.1:p.Val301=
NM_001284509.1:c.852G>A	NP_001271438.1:p.Val284=
NM_001284510.1:c.774G>A	NP_001271439.1:p.Val258=
NM_177550.4:c.903G>A , LRG_1020t1:c.903G>A	NP_808218.1:p.Val301=
XM_006721504.2:c.792G>A	XP_006721567.1:p.Val264=
XM_011523795.1:c.903G>A	XP_011522097.1:p.Val301=
XM_011523795.3:c.903G>A	XP_011522097.1:p.Val301=
NM_001143838.3:c.903G>A	NP_001137310.1:p.Val301=
NM_001284509.2:c.852G>A	NP_001271438.1:p.Val284=
NM_001284510.2:c.774G>A	NP_001271439.1:p.Val258=
NM_177550.5:c.903G>A MANE Select	NP_808218.1:p.Val301=