Canonical Allele Identifier: CA2149096

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227687549C>T , CM000664.2:g.227687549C>T	GRCh38
NC_000002.11:g.228552265C>T , CM000664.1:g.228552265C>T	GRCh37
NC_000002.10:g.228260509C>T	NCBI36
NG_016359.1:g.35481G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.1339G>A MANE Select	NP_079519.1:p.Ala447Thr
ENST00000644224.2:c.1339G>A MANE Select	ENSP00000495385.1:p.Ala447Thr
NM_001371411.1:c.1339G>A	NP_001358340.1:p.Ala447Thr
NM_001371412.1:c.1339G>A	NP_001358341.1:p.Ala447Thr
NM_001371413.1:c.1327G>A	NP_001358342.1:p.Ala443Thr
NM_001371414.1:c.1327G>A	NP_001358343.1:p.Ala443Thr
NM_025243.3:c.1339G>A	NP_079519.1:p.Ala447Thr
ENST00000258403.7:c.1339G>A	ENSP00000258403.3:p.Ala447Thr
ENST00000258403.8:c.1339G>A	ENSP00000258403.3:p.Ala447Thr
ENST00000409287.5:c.260-1380G>A	ENSP00000386298.1:n.260-1380G>A
ENST00000425817.5:c.1339G>A	ENSP00000397393.1:p.Ala447Thr
ENST00000425817.6:c.*1364G>A	ENSP00000397393.2:n.*1364G>A
ENST00000431622.6:c.*1364G>A	ENSP00000400627.1:n.*1364G>A
ENST00000642268.1:n.1529G>A
ENST00000645700.1:c.*450G>A	ENSP00000495372.1:n.*450G>A
ENST00000645923.1:c.*533G>A	ENSP00000495010.1:n.*533G>A
ENST00000646591.1:c.1375G>A	ENSP00000496701.1:p.Ala459Thr
ENST00000647113.1:c.*327G>A	ENSP00000494966.1:n.*327G>A
ENST00000676066.1:n.1069G>A
XM_005246874.2:c.1327G>A	XP_005246931.1:p.Ala443Thr
XM_005246874.3:c.1327G>A	XP_005246931.1:p.Ala443Thr
XM_006712779.2:c.1354G>A	XP_006712842.1:p.Ala452Thr
XM_011511931.1:c.1375G>A	XP_011510233.1:p.Ala459Thr
XM_011511931.2:c.1375G>A	XP_011510233.1:p.Ala459Thr
XM_011511932.1:c.1339G>A	XP_011510234.1:p.Ala447Thr
XM_011511933.1:c.1339G>A	XP_011510235.1:p.Ala447Thr
XM_017005030.1:c.1579G>A	XP_016860519.1:p.Ala527Thr
XM_017005031.1:c.1558G>A	XP_016860520.1:p.Ala520Thr
XM_017005032.1:c.1543G>A	XP_016860521.1:p.Ala515Thr
XM_017005033.1:c.1543G>A	XP_016860522.1:p.Ala515Thr
XM_017005034.2:c.1543G>A	XP_016860523.1:p.Ala515Thr