Canonical Allele Identifier: CA274763

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227702250dup , CM000664.2:g.227702250dup	GRCh38
NC_000002.11:g.228566966dup , CM000664.1:g.228566966dup	GRCh37
NC_000002.10:g.228275210dup	NCBI36
NG_016359.1:g.20785dup

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.74dup MANE Select	NP_079519.1:p.Ser26LeufsTer19
ENST00000644224.2:c.74dup MANE Select	ENSP00000495385.1:p.Ser26LeufsTer19
NM_001371411.1:c.74dup	NP_001358340.1:p.Ser26LeufsTer19
NM_001371412.1:c.74dup	NP_001358341.1:p.Ser26LeufsTer19
NM_001371413.1:c.-135dup	NP_001358342.1:n.-135dup
NM_001371414.1:c.-135dup	NP_001358343.1:n.-135dup
NM_025243.3:c.74dup	NP_079519.1:p.Ser26LeufsTer19
ENST00000258403.7:c.74dup	ENSP00000258403.3:p.Ser26LeufsTer19
ENST00000258403.8:c.74dup	ENSP00000258403.3:p.Ser26LeufsTer19
ENST00000409287.5:c.74dup	ENSP00000386298.1:p.Ser26LeufsTer19
ENST00000409456.2:c.74dup	ENSP00000387193.2:p.Ser26LeufsTer19
ENST00000419059.1:c.74dup	ENSP00000398349.1:p.Ser26LeufsTer19
ENST00000425817.5:c.74dup	ENSP00000397393.1:p.Ser26LeufsTer19
ENST00000425817.6:c.74dup	ENSP00000397393.2:p.Ser26LeufsTer19
ENST00000431622.5:c.74dup	ENSP00000400627.1:p.Ser26LeufsTer19
ENST00000431622.6:c.74dup	ENSP00000400627.1:p.Ser26LeufsTer19
ENST00000456524.5:c.74dup	ENSP00000399001.1:p.Ser26LeufsTer19
ENST00000456524.6:c.251dup	ENSP00000399001.2:p.Ser85LeufsTer19
ENST00000477697.1:n.133dup
ENST00000645700.1:c.74dup	ENSP00000495372.1:p.Ser26LeufsTer19
ENST00000645923.1:c.-165-2681dup	ENSP00000495010.1:n.-165-2681dup
ENST00000646591.1:c.110dup	ENSP00000496701.1:p.Ser38LeufsTer19
ENST00000647113.1:c.74dup	ENSP00000494966.1:p.Ser26LeufsTer19
XM_005246874.2:c.-135dup	XP_005246931.1:n.-135dup
XM_005246874.3:c.-135dup	XP_005246931.1:n.-135dup
XM_006712779.2:c.89dup	XP_006712842.1:p.Ser31LeufsTer19
XM_011511931.1:c.110dup	XP_011510233.1:p.Ser38LeufsTer19
XM_011511931.2:c.110dup	XP_011510233.1:p.Ser38LeufsTer19
XM_011511932.1:c.74dup	XP_011510234.1:p.Ser26LeufsTer19
XM_011511933.1:c.74dup	XP_011510235.1:p.Ser26LeufsTer19
XM_017005030.1:c.110dup	XP_016860519.1:p.Ser38LeufsTer19
XM_017005031.1:c.89dup	XP_016860520.1:p.Ser31LeufsTer19
XM_017005032.1:c.74dup	XP_016860521.1:p.Ser26LeufsTer19
XM_017005033.1:c.74dup	XP_016860522.1:p.Ser26LeufsTer19
XM_017005034.2:c.74dup	XP_016860523.1:p.Ser26LeufsTer19