Canonical Allele Identifier: CA8331640

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 937501
• ClinVar RCV Id: RCV001206522
• dbSNP Id: rs747576233
• ExAC: 17:6606293 T / C
• gnomAD v2: 17-6606293-T-C
• gnomAD v3: 17-6702974-T-C
• gnomAD v4: 17-6702974-T-C
• MyVariant Identifiers: chr17:g.6606293T>C (hg19) ; chr17:g.6702974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6702974T>C , CM000679.2:g.6702974T>C	GRCh38
NC_000017.10:g.6606293T>C , CM000679.1:g.6606293T>C	GRCh37
NC_000017.9:g.6547017T>C	NCBI36
NG_034220.1:g.15448A>G , LRG_1020:g.15448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.712A>G MANE Select	ENSP00000406220.2:p.Asn238Asp
ENST00000293800.10:c.661A>G	ENSP00000293800.6:p.Asn221Asp
ENST00000381074.8:c.583A>G	ENSP00000370464.4:p.Asn195Asp
ENST00000433363.6:c.712A>G	ENSP00000406220.2:p.Asn238Asp
ENST00000572094.1:c.*462A>G	ENSP00000461495.1:n.*462A>G
ENST00000573648.5:c.712A>G	ENSP00000459372.1:p.Asn238Asp
ENST00000574824.5:n.1845A>G
NM_001143838.2:c.712A>G	NP_001137310.1:p.Asn238Asp
NM_001284509.1:c.661A>G	NP_001271438.1:p.Asn221Asp
NM_001284510.1:c.583A>G	NP_001271439.1:p.Asn195Asp
NM_177550.4:c.712A>G , LRG_1020t1:c.712A>G	NP_808218.1:p.Asn238Asp
XM_006721504.2:c.601A>G	XP_006721567.1:p.Asn201Asp
XM_011523795.1:c.712A>G	XP_011522097.1:p.Asn238Asp
XM_011523795.3:c.712A>G	XP_011522097.1:p.Asn238Asp
NM_001143838.3:c.712A>G	NP_001137310.1:p.Asn238Asp
NM_001284509.2:c.661A>G	NP_001271438.1:p.Asn221Asp
NM_001284510.2:c.583A>G	NP_001271439.1:p.Asn195Asp
NM_177550.5:c.712A>G MANE Select	NP_808218.1:p.Asn238Asp