Canonical Allele Identifier: CA2149121

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227688228G>C , CM000664.2:g.227688228G>C	GRCh38
NC_000002.11:g.228552944G>C , CM000664.1:g.228552944G>C	GRCh37
NC_000002.10:g.228261188G>C	NCBI36
NG_016359.1:g.34802C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.1252C>G MANE Select	NP_079519.1:p.Gln418Glu
ENST00000644224.2:c.1252C>G MANE Select	ENSP00000495385.1:p.Gln418Glu
NM_001371411.1:c.1252C>G	NP_001358340.1:p.Gln418Glu
NM_001371412.1:c.1252C>G	NP_001358341.1:p.Gln418Glu
NM_001371413.1:c.1240C>G	NP_001358342.1:p.Gln414Glu
NM_001371414.1:c.1240C>G	NP_001358343.1:p.Gln414Glu
NM_025243.3:c.1252C>G	NP_079519.1:p.Gln418Glu
ENST00000258403.7:c.1252C>G	ENSP00000258403.3:p.Gln418Glu
ENST00000258403.8:c.1252C>G	ENSP00000258403.3:p.Gln418Glu
ENST00000409287.5:c.260-2059C>G	ENSP00000386298.1:n.260-2059C>G
ENST00000425817.5:c.1252C>G	ENSP00000397393.1:p.Gln418Glu
ENST00000425817.6:c.*1277C>G	ENSP00000397393.2:n.*1277C>G
ENST00000431622.6:c.*1277C>G	ENSP00000400627.1:n.*1277C>G
ENST00000642268.1:n.1442C>G
ENST00000645700.1:c.*363C>G	ENSP00000495372.1:n.*363C>G
ENST00000645923.1:c.*446C>G	ENSP00000495010.1:n.*446C>G
ENST00000646591.1:c.1288C>G	ENSP00000496701.1:p.Gln430Glu
ENST00000647113.1:c.*240C>G	ENSP00000494966.1:n.*240C>G
ENST00000676066.1:n.982C>G
XM_005246874.2:c.1240C>G	XP_005246931.1:p.Gln414Glu
XM_005246874.3:c.1240C>G	XP_005246931.1:p.Gln414Glu
XM_006712779.2:c.1267C>G	XP_006712842.1:p.Gln423Glu
XM_011511931.1:c.1288C>G	XP_011510233.1:p.Gln430Glu
XM_011511931.2:c.1288C>G	XP_011510233.1:p.Gln430Glu
XM_011511932.1:c.1252C>G	XP_011510234.1:p.Gln418Glu
XM_011511933.1:c.1252C>G	XP_011510235.1:p.Gln418Glu
XM_017005030.1:c.1492C>G	XP_016860519.1:p.Gln498Glu
XM_017005031.1:c.1471C>G	XP_016860520.1:p.Gln491Glu
XM_017005032.1:c.1456C>G	XP_016860521.1:p.Gln486Glu
XM_017005033.1:c.1456C>G	XP_016860522.1:p.Gln486Glu
XM_017005034.2:c.1456C>G	XP_016860523.1:p.Gln486Glu