Canonical Allele Identifier: CA397744668

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1973546846
• gnomAD v4: 17-6695873-T-C
• MyVariant Identifiers: chr17:g.6599192T>C (hg19) ; chr17:g.6695873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695873T>C , CM000679.2:g.6695873T>C	GRCh38
NC_000017.10:g.6599192T>C , CM000679.1:g.6599192T>C	GRCh37
NC_000017.9:g.6539916T>C	NCBI36
NG_034220.1:g.22549A>G , LRG_1020:g.22549A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.908A>G MANE Select	ENSP00000406220.2:p.Gln303Arg
ENST00000293800.10:c.857A>G	ENSP00000293800.6:p.Gln286Arg
ENST00000381074.8:c.779A>G	ENSP00000370464.4:p.Gln260Arg
ENST00000433363.6:c.908A>G	ENSP00000406220.2:p.Gln303Arg
ENST00000572094.1:c.*658A>G	ENSP00000461495.1:n.*658A>G
ENST00000572727.1:n.17A>G
ENST00000573648.5:c.908A>G	ENSP00000459372.1:p.Gln303Arg
ENST00000574824.5:n.2041A>G
NM_001143838.2:c.908A>G	NP_001137310.1:p.Gln303Arg
NM_001284509.1:c.857A>G	NP_001271438.1:p.Gln286Arg
NM_001284510.1:c.779A>G	NP_001271439.1:p.Gln260Arg
NM_177550.4:c.908A>G , LRG_1020t1:c.908A>G	NP_808218.1:p.Gln303Arg
XM_006721504.2:c.797A>G	XP_006721567.1:p.Gln266Arg
XM_011523795.1:c.908A>G	XP_011522097.1:p.Gln303Arg
XM_011523795.3:c.908A>G	XP_011522097.1:p.Gln303Arg
NM_001143838.3:c.908A>G	NP_001137310.1:p.Gln303Arg
NM_001284509.2:c.857A>G	NP_001271438.1:p.Gln286Arg
NM_001284510.2:c.779A>G	NP_001271439.1:p.Gln260Arg
NM_177550.5:c.908A>G MANE Select	NP_808218.1:p.Gln303Arg