Canonical Allele Identifier: CA287388361

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1190562
• ClinVar RCV Id: RCV001551337
• dbSNP Id: rs557415050
• gnomAD v2: 17-6599350-T-C
• gnomAD v3: 17-6696031-T-C
• gnomAD v4: 17-6696031-T-C
• MyVariant Identifiers: chr17:g.6599350T>C (hg19) ; chr17:g.6696031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6696031T>C , CM000679.2:g.6696031T>C	GRCh38
NC_000017.10:g.6599350T>C , CM000679.1:g.6599350T>C	GRCh37
NC_000017.9:g.6540074T>C	NCBI36
NG_034220.1:g.22391A>G , LRG_1020:g.22391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-90A>G MANE Select	ENSP00000406220.2:n.840-90A>G
ENST00000293800.10:c.789-90A>G	ENSP00000293800.6:n.789-90A>G
ENST00000381074.8:c.711-90A>G	ENSP00000370464.4:n.711-90A>G
ENST00000433363.6:c.840-90A>G	ENSP00000406220.2:n.840-90A>G
ENST00000572094.1:c.*590-90A>G	ENSP00000461495.1:n.*590-90A>G
ENST00000573648.5:c.840-90A>G	ENSP00000459372.1:n.840-90A>G
ENST00000574824.5:n.1973-90A>G
NM_001143838.2:c.840-90A>G	NP_001137310.1:n.840-90A>G
NM_001284509.1:c.789-90A>G	NP_001271438.1:n.789-90A>G
NM_001284510.1:c.711-90A>G	NP_001271439.1:n.711-90A>G
NM_177550.4:c.840-90A>G , LRG_1020t1:c.840-90A>G	NP_808218.1:n.840-90A>G
XM_006721504.2:c.729-90A>G	XP_006721567.1:n.729-90A>G
XM_011523795.1:c.840-90A>G	XP_011522097.1:n.840-90A>G
XM_011523795.3:c.840-90A>G	XP_011522097.1:n.840-90A>G
NM_001143838.3:c.840-90A>G	NP_001137310.1:n.840-90A>G
NM_001284509.2:c.789-90A>G	NP_001271438.1:n.789-90A>G
NM_001284510.2:c.711-90A>G	NP_001271439.1:n.711-90A>G
NM_177550.5:c.840-90A>G MANE Select	NP_808218.1:n.840-90A>G