Canonical Allele Identifier: CA8331579

Gene: SLC13A5

Linked Data

• dbSNP Id: rs370695545
• ExAC: 17:6599229 T / A
• gnomAD v2: 17-6599229-T-A
• gnomAD v3: 17-6695910-T-A
• gnomAD v4: 17-6695910-T-A
• MyVariant Identifiers: chr17:g.6599229T>A (hg19) ; chr17:g.6695910T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695910T>A , CM000679.2:g.6695910T>A	GRCh38
NC_000017.10:g.6599229T>A , CM000679.1:g.6599229T>A	GRCh37
NC_000017.9:g.6539953T>A	NCBI36
NG_034220.1:g.22512A>T , LRG_1020:g.22512A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.871A>T MANE Select	ENSP00000406220.2:p.Ser291Cys
ENST00000293800.10:c.820A>T	ENSP00000293800.6:p.Ser274Cys
ENST00000381074.8:c.742A>T	ENSP00000370464.4:p.Ser248Cys
ENST00000433363.6:c.871A>T	ENSP00000406220.2:p.Ser291Cys
ENST00000572094.1:c.*621A>T	ENSP00000461495.1:n.*621A>T
ENST00000573648.5:c.871A>T	ENSP00000459372.1:p.Ser291Cys
ENST00000574824.5:n.2004A>T
NM_001143838.2:c.871A>T	NP_001137310.1:p.Ser291Cys
NM_001284509.1:c.820A>T	NP_001271438.1:p.Ser274Cys
NM_001284510.1:c.742A>T	NP_001271439.1:p.Ser248Cys
NM_177550.4:c.871A>T , LRG_1020t1:c.871A>T	NP_808218.1:p.Ser291Cys
XM_006721504.2:c.760A>T	XP_006721567.1:p.Ser254Cys
XM_011523795.1:c.871A>T	XP_011522097.1:p.Ser291Cys
XM_011523795.3:c.871A>T	XP_011522097.1:p.Ser291Cys
NM_001143838.3:c.871A>T	NP_001137310.1:p.Ser291Cys
NM_001284509.2:c.820A>T	NP_001271438.1:p.Ser274Cys
NM_001284510.2:c.742A>T	NP_001271439.1:p.Ser248Cys
NM_177550.5:c.871A>T MANE Select	NP_808218.1:p.Ser291Cys