Canonical Allele Identifier: CA350877257

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227699299A>T , CM000664.2:g.227699299A>T	GRCh38
NC_000002.11:g.228564015A>T , CM000664.1:g.228564015A>T	GRCh37
NC_000002.10:g.228272259A>T	NCBI36
NG_016359.1:g.23731T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.416T>A MANE Select	NP_079519.1:p.Val139Glu
ENST00000644224.2:c.416T>A MANE Select	ENSP00000495385.1:p.Val139Glu
NM_001371411.1:c.416T>A	NP_001358340.1:p.Val139Glu
NM_001371412.1:c.416T>A	NP_001358341.1:p.Val139Glu
NM_001371413.1:c.404T>A	NP_001358342.1:p.Val135Glu
NM_001371414.1:c.404T>A	NP_001358343.1:p.Val135Glu
NM_025243.3:c.416T>A	NP_079519.1:p.Val139Glu
ENST00000258403.7:c.416T>A	ENSP00000258403.3:p.Val139Glu
ENST00000258403.8:c.416T>A	ENSP00000258403.3:p.Val139Glu
ENST00000409287.5:c.259+157T>A	ENSP00000386298.1:n.259+157T>A
ENST00000425817.5:c.416T>A	ENSP00000397393.1:p.Val139Glu
ENST00000425817.6:c.*441T>A	ENSP00000397393.2:n.*441T>A
ENST00000431622.6:c.*441T>A	ENSP00000400627.1:n.*441T>A
ENST00000456524.6:c.593T>A	ENSP00000399001.2:p.Val198Glu
ENST00000642268.1:n.606T>A
ENST00000645700.1:c.151-453T>A	ENSP00000495372.1:n.151-453T>A
ENST00000645923.1:c.101T>A	ENSP00000495010.1:p.Val34Glu
ENST00000646591.1:c.452T>A	ENSP00000496701.1:p.Val151Glu
ENST00000647113.1:c.150+2870T>A	ENSP00000494966.1:n.150+2870T>A
ENST00000676066.1:n.146T>A
XM_005246874.2:c.404T>A	XP_005246931.1:p.Val135Glu
XM_005246874.3:c.404T>A	XP_005246931.1:p.Val135Glu
XM_006712779.2:c.431T>A	XP_006712842.1:p.Val144Glu
XM_011511931.1:c.452T>A	XP_011510233.1:p.Val151Glu
XM_011511931.2:c.452T>A	XP_011510233.1:p.Val151Glu
XM_011511932.1:c.416T>A	XP_011510234.1:p.Val139Glu
XM_011511933.1:c.416T>A	XP_011510235.1:p.Val139Glu
XM_017005030.1:c.656T>A	XP_016860519.1:p.Val219Glu
XM_017005031.1:c.635T>A	XP_016860520.1:p.Val212Glu
XM_017005032.1:c.620T>A	XP_016860521.1:p.Val207Glu
XM_017005033.1:c.620T>A	XP_016860522.1:p.Val207Glu
XM_017005034.2:c.620T>A	XP_016860523.1:p.Val207Glu