Canonical Allele Identifier: CA497596783

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6707076-G-C
• MyVariant Identifiers: chr17:g.6610395G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6707076G>C , CM000679.2:g.6707076G>C	GRCh38
NC_000017.10:g.6610395G>C , CM000679.1:g.6610395G>C	GRCh37
NC_000017.9:g.6551119G>C	NCBI36
NG_034220.1:g.11346C>G , LRG_1020:g.11346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.183C>G MANE Select	ENSP00000406220.2:p.Leu61=
ENST00000293800.10:c.183C>G	ENSP00000293800.6:p.Leu61=
ENST00000381074.8:c.103-298C>G	ENSP00000370464.4:n.103-298C>G
ENST00000433363.6:c.183C>G	ENSP00000406220.2:p.Leu61=
ENST00000572094.1:c.183C>G	ENSP00000461495.1:p.Leu61=
ENST00000572352.5:c.103-31C>G	ENSP00000461622.1:n.103-31C>G
ENST00000573648.5:c.183C>G	ENSP00000459372.1:p.Leu61=
ENST00000575230.1:c.183C>G	ENSP00000460903.1:p.Leu61=
ENST00000576323.1:n.213C>G
NM_001143838.2:c.183C>G	NP_001137310.1:p.Leu61=
NM_001284509.1:c.183C>G	NP_001271438.1:p.Leu61=
NM_001284510.1:c.103-298C>G	NP_001271439.1:n.103-298C>G
NM_177550.4:c.183C>G , LRG_1020t1:c.183C>G	NP_808218.1:p.Leu61=
XM_006721504.2:c.103-31C>G	XP_006721567.1:n.103-31C>G
XM_011523795.1:c.183C>G	XP_011522097.1:p.Leu61=
XM_011523795.3:c.183C>G	XP_011522097.1:p.Leu61=
NM_001143838.3:c.183C>G	NP_001137310.1:p.Leu61=
NM_001284509.2:c.183C>G	NP_001271438.1:p.Leu61=
NM_001284510.2:c.103-298C>G	NP_001271439.1:n.103-298C>G
NM_177550.5:c.183C>G MANE Select	NP_808218.1:p.Leu61=