Canonical Allele Identifier: CA397743859

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6695775-C-A
• MyVariant Identifiers: chr17:g.6599094C>A (hg19) ; chr17:g.6695775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695775C>A , CM000679.2:g.6695775C>A	GRCh38
NC_000017.10:g.6599094C>A , CM000679.1:g.6599094C>A	GRCh37
NC_000017.9:g.6539818C>A	NCBI36
NG_034220.1:g.22647G>T , LRG_1020:g.22647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1006G>T MANE Select	ENSP00000406220.2:p.Gly336Cys
ENST00000293800.10:c.955G>T	ENSP00000293800.6:p.Gly319Cys
ENST00000381074.8:c.877G>T	ENSP00000370464.4:p.Gly293Cys
ENST00000433363.6:c.1006G>T	ENSP00000406220.2:p.Gly336Cys
ENST00000572727.1:n.115G>T
ENST00000573648.5:c.1006G>T	ENSP00000459372.1:p.Gly336Cys
ENST00000574824.5:n.2139G>T
NM_001143838.2:c.1006G>T	NP_001137310.1:p.Gly336Cys
NM_001284509.1:c.955G>T	NP_001271438.1:p.Gly319Cys
NM_001284510.1:c.877G>T	NP_001271439.1:p.Gly293Cys
NM_177550.4:c.1006G>T , LRG_1020t1:c.1006G>T	NP_808218.1:p.Gly336Cys
XM_006721504.2:c.895G>T	XP_006721567.1:p.Gly299Cys
XM_011523795.1:c.1006G>T	XP_011522097.1:p.Gly336Cys
XM_011523795.3:c.1006G>T	XP_011522097.1:p.Gly336Cys
NM_001143838.3:c.1006G>T	NP_001137310.1:p.Gly336Cys
NM_001284509.2:c.955G>T	NP_001271438.1:p.Gly319Cys
NM_001284510.2:c.877G>T	NP_001271439.1:p.Gly293Cys
NM_177550.5:c.1006G>T MANE Select	NP_808218.1:p.Gly336Cys