Canonical Allele Identifier: CA253230

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698757C>G , CM000664.2:g.227698757C>G	GRCh38
NC_000002.11:g.228563473C>G , CM000664.1:g.228563473C>G	GRCh37
NC_000002.10:g.228271717C>G	NCBI36
NG_016359.1:g.24273G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.958G>C MANE Select	NP_079519.1:p.Glu320Gln
ENST00000644224.2:c.958G>C MANE Select	ENSP00000495385.1:p.Glu320Gln
NM_001371411.1:c.958G>C	NP_001358340.1:p.Glu320Gln
NM_001371412.1:c.958G>C	NP_001358341.1:p.Glu320Gln
NM_001371413.1:c.946G>C	NP_001358342.1:p.Glu316Gln
NM_001371414.1:c.946G>C	NP_001358343.1:p.Glu316Gln
NM_025243.3:c.958G>C	NP_079519.1:p.Glu320Gln
ENST00000258403.7:c.958G>C	ENSP00000258403.3:p.Glu320Gln
ENST00000258403.8:c.958G>C	ENSP00000258403.3:p.Glu320Gln
ENST00000409287.5:c.259+699G>C	ENSP00000386298.1:n.259+699G>C
ENST00000425817.5:c.958G>C	ENSP00000397393.1:p.Glu320Gln
ENST00000425817.6:c.*983G>C	ENSP00000397393.2:n.*983G>C
ENST00000431622.6:c.*983G>C	ENSP00000400627.1:n.*983G>C
ENST00000642268.1:n.1148G>C
ENST00000645700.1:c.*69G>C	ENSP00000495372.1:n.*69G>C
ENST00000645923.1:c.643G>C	ENSP00000495010.1:p.Glu215Gln
ENST00000646591.1:c.994G>C	ENSP00000496701.1:p.Glu332Gln
ENST00000647113.1:c.151-2676G>C	ENSP00000494966.1:n.151-2676G>C
ENST00000676066.1:n.688G>C
XM_005246874.2:c.946G>C	XP_005246931.1:p.Glu316Gln
XM_005246874.3:c.946G>C	XP_005246931.1:p.Glu316Gln
XM_006712779.2:c.973G>C	XP_006712842.1:p.Glu325Gln
XM_011511931.1:c.994G>C	XP_011510233.1:p.Glu332Gln
XM_011511931.2:c.994G>C	XP_011510233.1:p.Glu332Gln
XM_011511932.1:c.958G>C	XP_011510234.1:p.Glu320Gln
XM_011511933.1:c.958G>C	XP_011510235.1:p.Glu320Gln
XM_017005030.1:c.1198G>C	XP_016860519.1:p.Glu400Gln
XM_017005031.1:c.1177G>C	XP_016860520.1:p.Glu393Gln
XM_017005032.1:c.1162G>C	XP_016860521.1:p.Glu388Gln
XM_017005033.1:c.1162G>C	XP_016860522.1:p.Glu388Gln
XM_017005034.2:c.1162G>C	XP_016860523.1:p.Glu388Gln