Canonical Allele Identifier: CA14493706

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 670097
• ClinVar RCV Id: RCV000829228
• dbSNP Id: rs218675
• gnomAD v2: 17-6606976-G-T
• gnomAD v3: 17-6703657-G-T
• gnomAD v4: 17-6703657-G-T
• MyVariant Identifiers: chr17:g.6606976G>T (hg19) ; chr17:g.6703657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703657G>T , CM000679.2:g.6703657G>T	GRCh38
NC_000017.10:g.6606976G>T , CM000679.1:g.6606976G>T	GRCh37
NC_000017.9:g.6547700G>T	NCBI36
NG_034220.1:g.14765C>A , LRG_1020:g.14765C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433363.7:c.547+221C>A MANE Select	ENSP00000406220.2:n.547+221C>A
ENST00000293800.10:c.496+221C>A	ENSP00000293800.6:n.496+221C>A
ENST00000381074.8:c.418+221C>A	ENSP00000370464.4:n.418+221C>A
ENST00000433363.6:c.547+221C>A	ENSP00000406220.2:n.547+221C>A
ENST00000572094.1:c.*297+221C>A	ENSP00000461495.1:n.*297+221C>A
ENST00000572352.5:c.436+221C>A	ENSP00000461622.1:n.436+221C>A
ENST00000573648.5:c.547+221C>A	ENSP00000459372.1:n.547+221C>A
ENST00000574824.5:n.1680+221C>A
NM_001143838.2:c.547+221C>A	NP_001137310.1:n.547+221C>A
NM_001284509.1:c.496+221C>A	NP_001271438.1:n.496+221C>A
NM_001284510.1:c.418+221C>A	NP_001271439.1:n.418+221C>A
NM_177550.4:c.547+221C>A , LRG_1020t1:c.547+221C>A	NP_808218.1:n.547+221C>A
XM_006721504.2:c.436+221C>A	XP_006721567.1:n.436+221C>A
XM_011523795.1:c.547+221C>A	XP_011522097.1:n.547+221C>A
XM_011523795.3:c.547+221C>A	XP_011522097.1:n.547+221C>A
NM_001143838.3:c.547+221C>A	NP_001137310.1:n.547+221C>A
NM_001284509.2:c.496+221C>A	NP_001271438.1:n.496+221C>A
NM_001284510.2:c.418+221C>A	NP_001271439.1:n.418+221C>A
NM_177550.5:c.547+221C>A MANE Select	NP_808218.1:n.547+221C>A