Canonical Allele Identifier: CA397744910

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1973548831
• gnomAD v4: 17-6695907-T-G
• MyVariant Identifiers: chr17:g.6599226T>G (hg19) ; chr17:g.6695907T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695907T>G , CM000679.2:g.6695907T>G	GRCh38
NC_000017.10:g.6599226T>G , CM000679.1:g.6599226T>G	GRCh37
NC_000017.9:g.6539950T>G	NCBI36
NG_034220.1:g.22515A>C , LRG_1020:g.22515A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.874A>C MANE Select	ENSP00000406220.2:p.Lys292Gln
ENST00000293800.10:c.823A>C	ENSP00000293800.6:p.Lys275Gln
ENST00000381074.8:c.745A>C	ENSP00000370464.4:p.Lys249Gln
ENST00000433363.6:c.874A>C	ENSP00000406220.2:p.Lys292Gln
ENST00000572094.1:c.*624A>C	ENSP00000461495.1:n.*624A>C
ENST00000573648.5:c.874A>C	ENSP00000459372.1:p.Lys292Gln
ENST00000574824.5:n.2007A>C
NM_001143838.2:c.874A>C	NP_001137310.1:p.Lys292Gln
NM_001284509.1:c.823A>C	NP_001271438.1:p.Lys275Gln
NM_001284510.1:c.745A>C	NP_001271439.1:p.Lys249Gln
NM_177550.4:c.874A>C , LRG_1020t1:c.874A>C	NP_808218.1:p.Lys292Gln
XM_006721504.2:c.763A>C	XP_006721567.1:p.Lys255Gln
XM_011523795.1:c.874A>C	XP_011522097.1:p.Lys292Gln
XM_011523795.3:c.874A>C	XP_011522097.1:p.Lys292Gln
NM_001143838.3:c.874A>C	NP_001137310.1:p.Lys292Gln
NM_001284509.2:c.823A>C	NP_001271438.1:p.Lys275Gln
NM_001284510.2:c.745A>C	NP_001271439.1:p.Lys249Gln
NM_177550.5:c.874A>C MANE Select	NP_808218.1:p.Lys292Gln