Canonical Allele Identifier: CA397750258

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6607365C>A (hg19) ; chr17:g.6704046C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704046C>A , CM000679.2:g.6704046C>A	GRCh38
NC_000017.10:g.6607365C>A , CM000679.1:g.6607365C>A	GRCh37
NC_000017.9:g.6548089C>A	NCBI36
NG_034220.1:g.14376G>T , LRG_1020:g.14376G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.379G>T MANE Select	ENSP00000406220.2:p.Gly127Cys
ENST00000293800.10:c.369-41G>T	ENSP00000293800.6:n.369-41G>T
ENST00000381074.8:c.250G>T	ENSP00000370464.4:p.Gly84Cys
ENST00000433363.6:c.379G>T	ENSP00000406220.2:p.Gly127Cys
ENST00000572094.1:c.*129G>T	ENSP00000461495.1:n.*129G>T
ENST00000572352.5:c.268G>T	ENSP00000461622.1:p.Gly90Cys
ENST00000573648.5:c.379G>T	ENSP00000459372.1:p.Gly127Cys
ENST00000574824.5:n.1512G>T
ENST00000575230.1:c.*225G>T	ENSP00000460903.1:n.*225G>T
ENST00000576323.1:n.409G>T
NM_001143838.2:c.379G>T	NP_001137310.1:p.Gly127Cys
NM_001284509.1:c.369-41G>T	NP_001271438.1:n.369-41G>T
NM_001284510.1:c.250G>T	NP_001271439.1:p.Gly84Cys
NM_177550.4:c.379G>T , LRG_1020t1:c.379G>T	NP_808218.1:p.Gly127Cys
XM_006721504.2:c.268G>T	XP_006721567.1:p.Gly90Cys
XM_011523795.1:c.379G>T	XP_011522097.1:p.Gly127Cys
XM_011523795.3:c.379G>T	XP_011522097.1:p.Gly127Cys
NM_001143838.3:c.379G>T	NP_001137310.1:p.Gly127Cys
NM_001284509.2:c.369-41G>T	NP_001271438.1:n.369-41G>T
NM_001284510.2:c.250G>T	NP_001271439.1:p.Gly84Cys
NM_177550.5:c.379G>T MANE Select	NP_808218.1:p.Gly127Cys