Canonical Allele Identifier: CA8331699

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 966392
• ClinVar RCV Id: RCV001241055
• dbSNP Id: rs758852137
• ExAC: 17:6607247 G / T
• gnomAD v2: 17-6607247-G-T
• gnomAD v4: 17-6703928-G-T
• MyVariant Identifiers: chr17:g.6607247G>T (hg19) ; chr17:g.6703928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703928G>T , CM000679.2:g.6703928G>T	GRCh38
NC_000017.10:g.6607247G>T , CM000679.1:g.6607247G>T	GRCh37
NC_000017.9:g.6547971G>T	NCBI36
NG_034220.1:g.14494C>A , LRG_1020:g.14494C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.497C>A MANE Select	ENSP00000406220.2:p.Thr166Asn
ENST00000293800.10:c.446C>A	ENSP00000293800.6:p.Thr149Asn
ENST00000381074.8:c.368C>A	ENSP00000370464.4:p.Thr123Asn
ENST00000433363.6:c.497C>A	ENSP00000406220.2:p.Thr166Asn
ENST00000572094.1:c.*247C>A	ENSP00000461495.1:n.*247C>A
ENST00000572352.5:c.386C>A	ENSP00000461622.1:p.Thr129Asn
ENST00000573648.5:c.497C>A	ENSP00000459372.1:p.Thr166Asn
ENST00000574824.5:n.1630C>A
ENST00000576323.1:n.527C>A
NM_001143838.2:c.497C>A	NP_001137310.1:p.Thr166Asn
NM_001284509.1:c.446C>A	NP_001271438.1:p.Thr149Asn
NM_001284510.1:c.368C>A	NP_001271439.1:p.Thr123Asn
NM_177550.4:c.497C>A , LRG_1020t1:c.497C>A	NP_808218.1:p.Thr166Asn
XM_006721504.2:c.386C>A	XP_006721567.1:p.Thr129Asn
XM_011523795.1:c.497C>A	XP_011522097.1:p.Thr166Asn
XM_011523795.3:c.497C>A	XP_011522097.1:p.Thr166Asn
NM_001143838.3:c.497C>A	NP_001137310.1:p.Thr166Asn
NM_001284509.2:c.446C>A	NP_001271438.1:p.Thr149Asn
NM_001284510.2:c.368C>A	NP_001271439.1:p.Thr123Asn
NM_177550.5:c.497C>A MANE Select	NP_808218.1:p.Thr166Asn