Canonical Allele Identifier: CA8331583

Gene: SLC13A5

Linked Data

• dbSNP Id: rs757622380
• ExAC: 17:6599247 A / G
• gnomAD v4: 17-6695928-A-G
• MyVariant Identifiers: chr17:g.6599247A>G (hg19) ; chr17:g.6695928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695928A>G , CM000679.2:g.6695928A>G	GRCh38
NC_000017.10:g.6599247A>G , CM000679.1:g.6599247A>G	GRCh37
NC_000017.9:g.6539971A>G	NCBI36
NG_034220.1:g.22494T>C , LRG_1020:g.22494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.853T>C MANE Select	ENSP00000406220.2:p.Trp285Arg
ENST00000293800.10:c.802T>C	ENSP00000293800.6:p.Trp268Arg
ENST00000381074.8:c.724T>C	ENSP00000370464.4:p.Trp242Arg
ENST00000433363.6:c.853T>C	ENSP00000406220.2:p.Trp285Arg
ENST00000572094.1:c.*603T>C	ENSP00000461495.1:n.*603T>C
ENST00000573648.5:c.853T>C	ENSP00000459372.1:p.Trp285Arg
ENST00000574824.5:n.1986T>C
NM_001143838.2:c.853T>C	NP_001137310.1:p.Trp285Arg
NM_001284509.1:c.802T>C	NP_001271438.1:p.Trp268Arg
NM_001284510.1:c.724T>C	NP_001271439.1:p.Trp242Arg
NM_177550.4:c.853T>C , LRG_1020t1:c.853T>C	NP_808218.1:p.Trp285Arg
XM_006721504.2:c.742T>C	XP_006721567.1:p.Trp248Arg
XM_011523795.1:c.853T>C	XP_011522097.1:p.Trp285Arg
XM_011523795.3:c.853T>C	XP_011522097.1:p.Trp285Arg
NM_001143838.3:c.853T>C	NP_001137310.1:p.Trp285Arg
NM_001284509.2:c.802T>C	NP_001271438.1:p.Trp268Arg
NM_001284510.2:c.724T>C	NP_001271439.1:p.Trp242Arg
NM_177550.5:c.853T>C MANE Select	NP_808218.1:p.Trp285Arg