Canonical Allele Identifier: CA8331728

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 382737
• ClinVar RCV Id: RCV000431698 ; RCV001512553
• dbSNP Id: rs218677
• ExAC: 17:6607389 G / A
• gnomAD v2: 17-6607389-G-A
• gnomAD v3: 17-6704070-G-A
• gnomAD v4: 17-6704070-G-A
• MyVariant Identifiers: chr17:g.6607389G>A (hg19) ; chr17:g.6704070G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704070G>A , CM000679.2:g.6704070G>A	GRCh38
NC_000017.10:g.6607389G>A , CM000679.1:g.6607389G>A	GRCh37
NC_000017.9:g.6548113G>A	NCBI36
NG_034220.1:g.14352C>T , LRG_1020:g.14352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.369-14C>T MANE Select	ENSP00000406220.2:n.369-14C>T
ENST00000293800.10:c.369-65C>T	ENSP00000293800.6:n.369-65C>T
ENST00000381074.8:c.240-14C>T	ENSP00000370464.4:n.240-14C>T
ENST00000433363.6:c.369-14C>T	ENSP00000406220.2:n.369-14C>T
ENST00000572094.1:c.*119-14C>T	ENSP00000461495.1:n.*119-14C>T
ENST00000572352.5:c.258-14C>T	ENSP00000461622.1:n.258-14C>T
ENST00000573648.5:c.369-14C>T	ENSP00000459372.1:n.369-14C>T
ENST00000574824.5:n.1488C>T
ENST00000575230.1:c.*215-14C>T	ENSP00000460903.1:n.*215-14C>T
ENST00000576323.1:n.399-14C>T
NM_001143838.2:c.369-14C>T	NP_001137310.1:n.369-14C>T
NM_001284509.1:c.369-65C>T	NP_001271438.1:n.369-65C>T
NM_001284510.1:c.240-14C>T	NP_001271439.1:n.240-14C>T
NM_177550.4:c.369-14C>T , LRG_1020t1:c.369-14C>T	NP_808218.1:n.369-14C>T
XM_006721504.2:c.258-14C>T	XP_006721567.1:n.258-14C>T
XM_011523795.1:c.369-14C>T	XP_011522097.1:n.369-14C>T
XM_011523795.3:c.369-14C>T	XP_011522097.1:n.369-14C>T
NM_001143838.3:c.369-14C>T	NP_001137310.1:n.369-14C>T
NM_001284509.2:c.369-65C>T	NP_001271438.1:n.369-65C>T
NM_001284510.2:c.240-14C>T	NP_001271439.1:n.240-14C>T
NM_177550.5:c.369-14C>T MANE Select	NP_808218.1:n.369-14C>T