Canonical Allele Identifier: CA253228

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227702189T>C , CM000664.2:g.227702189T>C	GRCh38
NC_000002.11:g.228566905T>C , CM000664.1:g.228566905T>C	GRCh37
NC_000002.10:g.228275149T>C	NCBI36
NG_016359.1:g.20841A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.130A>G MANE Select	NP_079519.1:p.Lys44Glu
ENST00000644224.2:c.130A>G MANE Select	ENSP00000495385.1:p.Lys44Glu
NM_001371411.1:c.130A>G	NP_001358340.1:p.Lys44Glu
NM_001371412.1:c.130A>G	NP_001358341.1:p.Lys44Glu
NM_001371413.1:c.-79A>G	NP_001358342.1:n.-79A>G
NM_001371414.1:c.-79A>G	NP_001358343.1:n.-79A>G
NM_025243.3:c.130A>G	NP_079519.1:p.Lys44Glu
ENST00000258403.7:c.130A>G	ENSP00000258403.3:p.Lys44Glu
ENST00000258403.8:c.130A>G	ENSP00000258403.3:p.Lys44Glu
ENST00000409287.5:c.130A>G	ENSP00000386298.1:p.Lys44Glu
ENST00000409456.2:c.130A>G	ENSP00000387193.2:p.Lys44Glu
ENST00000419059.1:c.130A>G	ENSP00000398349.1:p.Lys44Glu
ENST00000425817.5:c.130A>G	ENSP00000397393.1:p.Lys44Glu
ENST00000425817.6:c.130A>G	ENSP00000397393.2:p.Lys44Glu
ENST00000431622.5:c.130A>G	ENSP00000400627.1:p.Lys44Glu
ENST00000431622.6:c.130A>G	ENSP00000400627.1:p.Lys44Glu
ENST00000456524.5:c.130A>G	ENSP00000399001.1:p.Lys44Glu
ENST00000456524.6:c.307A>G	ENSP00000399001.2:p.Lys103Glu
ENST00000477697.1:n.189A>G
ENST00000645700.1:c.130A>G	ENSP00000495372.1:p.Lys44Glu
ENST00000645923.1:c.-165-2625A>G	ENSP00000495010.1:n.-165-2625A>G
ENST00000646591.1:c.166A>G	ENSP00000496701.1:p.Lys56Glu
ENST00000647113.1:c.130A>G	ENSP00000494966.1:p.Lys44Glu
XM_005246874.2:c.-79A>G	XP_005246931.1:n.-79A>G
XM_005246874.3:c.-79A>G	XP_005246931.1:n.-79A>G
XM_006712779.2:c.145A>G	XP_006712842.1:p.Lys49Glu
XM_011511931.1:c.166A>G	XP_011510233.1:p.Lys56Glu
XM_011511931.2:c.166A>G	XP_011510233.1:p.Lys56Glu
XM_011511932.1:c.130A>G	XP_011510234.1:p.Lys44Glu
XM_011511933.1:c.130A>G	XP_011510235.1:p.Lys44Glu
XM_017005030.1:c.166A>G	XP_016860519.1:p.Lys56Glu
XM_017005031.1:c.145A>G	XP_016860520.1:p.Lys49Glu
XM_017005032.1:c.130A>G	XP_016860521.1:p.Lys44Glu
XM_017005033.1:c.130A>G	XP_016860522.1:p.Lys44Glu
XM_017005034.2:c.130A>G	XP_016860523.1:p.Lys44Glu