Canonical Allele Identifier: CA397750149

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6703995-T-C
• MyVariant Identifiers: chr17:g.6607314T>C (hg19) ; chr17:g.6703995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703995T>C , CM000679.2:g.6703995T>C	GRCh38
NC_000017.10:g.6607314T>C , CM000679.1:g.6607314T>C	GRCh37
NC_000017.9:g.6548038T>C	NCBI36
NG_034220.1:g.14427A>G , LRG_1020:g.14427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.430A>G MANE Select	ENSP00000406220.2:p.Thr144Ala
ENST00000293800.10:c.379A>G	ENSP00000293800.6:p.Thr127Ala
ENST00000381074.8:c.301A>G	ENSP00000370464.4:p.Thr101Ala
ENST00000433363.6:c.430A>G	ENSP00000406220.2:p.Thr144Ala
ENST00000572094.1:c.*180A>G	ENSP00000461495.1:n.*180A>G
ENST00000572352.5:c.319A>G	ENSP00000461622.1:p.Thr107Ala
ENST00000573648.5:c.430A>G	ENSP00000459372.1:p.Thr144Ala
ENST00000574824.5:n.1563A>G
ENST00000576323.1:n.460A>G
NM_001143838.2:c.430A>G	NP_001137310.1:p.Thr144Ala
NM_001284509.1:c.379A>G	NP_001271438.1:p.Thr127Ala
NM_001284510.1:c.301A>G	NP_001271439.1:p.Thr101Ala
NM_177550.4:c.430A>G , LRG_1020t1:c.430A>G	NP_808218.1:p.Thr144Ala
XM_006721504.2:c.319A>G	XP_006721567.1:p.Thr107Ala
XM_011523795.1:c.430A>G	XP_011522097.1:p.Thr144Ala
XM_011523795.3:c.430A>G	XP_011522097.1:p.Thr144Ala
NM_001143838.3:c.430A>G	NP_001137310.1:p.Thr144Ala
NM_001284509.2:c.379A>G	NP_001271438.1:p.Thr127Ala
NM_001284510.2:c.301A>G	NP_001271439.1:p.Thr101Ala
NM_177550.5:c.430A>G MANE Select	NP_808218.1:p.Thr144Ala