Canonical Allele Identifier: CA397752052

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1431018518
• gnomAD v2: 17-6610466-A-C
• gnomAD v3: 17-6707147-A-C
• gnomAD v4: 17-6707147-A-C
• MyVariant Identifiers: chr17:g.6610466A>C (hg19) ; chr17:g.6707147A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6707147A>C , CM000679.2:g.6707147A>C	GRCh38
NC_000017.10:g.6610466A>C , CM000679.1:g.6610466A>C	GRCh37
NC_000017.9:g.6551190A>C	NCBI36
NG_034220.1:g.11275T>G , LRG_1020:g.11275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.112T>G MANE Select	ENSP00000406220.2:p.Cys38Gly
ENST00000293800.10:c.112T>G	ENSP00000293800.6:p.Cys38Gly
ENST00000381074.8:c.103-369T>G	ENSP00000370464.4:n.103-369T>G
ENST00000433363.6:c.112T>G	ENSP00000406220.2:p.Cys38Gly
ENST00000572094.1:c.112T>G	ENSP00000461495.1:p.Cys38Gly
ENST00000572352.5:c.103-102T>G	ENSP00000461622.1:n.103-102T>G
ENST00000573648.5:c.112T>G	ENSP00000459372.1:p.Cys38Gly
ENST00000575230.1:c.112T>G	ENSP00000460903.1:p.Cys38Gly
ENST00000576323.1:n.142T>G
NM_001143838.2:c.112T>G	NP_001137310.1:p.Cys38Gly
NM_001284509.1:c.112T>G	NP_001271438.1:p.Cys38Gly
NM_001284510.1:c.103-369T>G	NP_001271439.1:n.103-369T>G
NM_177550.4:c.112T>G , LRG_1020t1:c.112T>G	NP_808218.1:p.Cys38Gly
XM_006721504.2:c.103-102T>G	XP_006721567.1:n.103-102T>G
XM_011523795.1:c.112T>G	XP_011522097.1:p.Cys38Gly
XM_011523795.3:c.112T>G	XP_011522097.1:p.Cys38Gly
NM_001143838.3:c.112T>G	NP_001137310.1:p.Cys38Gly
NM_001284509.2:c.112T>G	NP_001271438.1:p.Cys38Gly
NM_001284510.2:c.103-369T>G	NP_001271439.1:n.103-369T>G
NM_177550.5:c.112T>G MANE Select	NP_808218.1:p.Cys38Gly