Canonical Allele Identifier: CA287388253

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1093124
• ClinVar RCV Id: RCV001413202
• dbSNP Id: rs910523768
• gnomAD v2: 17-6599236-C-T
• gnomAD v3: 17-6695917-C-T
• gnomAD v4: 17-6695917-C-T
• MyVariant Identifiers: chr17:g.6599236C>T (hg19) ; chr17:g.6695917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695917C>T , CM000679.2:g.6695917C>T	GRCh38
NC_000017.10:g.6599236C>T , CM000679.1:g.6599236C>T	GRCh37
NC_000017.9:g.6539960C>T	NCBI36
NG_034220.1:g.22505G>A , LRG_1020:g.22505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.864G>A MANE Select	ENSP00000406220.2:p.Gly288=
ENST00000293800.10:c.813G>A	ENSP00000293800.6:p.Gly271=
ENST00000381074.8:c.735G>A	ENSP00000370464.4:p.Gly245=
ENST00000433363.6:c.864G>A	ENSP00000406220.2:p.Gly288=
ENST00000572094.1:c.*614G>A	ENSP00000461495.1:n.*614G>A
ENST00000573648.5:c.864G>A	ENSP00000459372.1:p.Gly288=
ENST00000574824.5:n.1997G>A
NM_001143838.2:c.864G>A	NP_001137310.1:p.Gly288=
NM_001284509.1:c.813G>A	NP_001271438.1:p.Gly271=
NM_001284510.1:c.735G>A	NP_001271439.1:p.Gly245=
NM_177550.4:c.864G>A , LRG_1020t1:c.864G>A	NP_808218.1:p.Gly288=
XM_006721504.2:c.753G>A	XP_006721567.1:p.Gly251=
XM_011523795.1:c.864G>A	XP_011522097.1:p.Gly288=
XM_011523795.3:c.864G>A	XP_011522097.1:p.Gly288=
NM_001143838.3:c.864G>A	NP_001137310.1:p.Gly288=
NM_001284509.2:c.813G>A	NP_001271438.1:p.Gly271=
NM_001284510.2:c.735G>A	NP_001271439.1:p.Gly245=
NM_177550.5:c.864G>A MANE Select	NP_808218.1:p.Gly288=