Canonical Allele Identifier: CA350877554
Community Standard Title: NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227699435A>G , CM000664.2:g.227699435A>G GRCh38
NC_000002.11:g.228564151A>G , CM000664.1:g.228564151A>G GRCh37
NC_000002.10:g.228272395A>G NCBI36
NG_016359.1:g.23595T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.280T>C MANE Select NP_079519.1:p.Trp94Arg
ENST00000644224.2:c.280T>C MANE Select ENSP00000495385.1:p.Trp94Arg
NM_001371411.1:c.280T>C NP_001358340.1:p.Trp94Arg
NM_001371412.1:c.280T>C NP_001358341.1:p.Trp94Arg
NM_001371413.1:c.268T>C NP_001358342.1:p.Trp90Arg
NM_001371414.1:c.268T>C NP_001358343.1:p.Trp90Arg
NM_025243.3:c.280T>C NP_079519.1:p.Trp94Arg
ENST00000258403.7:c.280T>C ENSP00000258403.3:p.Trp94Arg
ENST00000258403.8:c.280T>C ENSP00000258403.3:p.Trp94Arg
ENST00000409287.5:c.259+21T>C ENSP00000386298.1:n.259+21T>C
ENST00000425817.5:c.280T>C ENSP00000397393.1:p.Trp94Arg
ENST00000425817.6:c.*305T>C ENSP00000397393.2:n.*305T>C
ENST00000431622.5:c.*305T>C ENSP00000400627.1:n.*305T>C
ENST00000431622.6:c.*305T>C ENSP00000400627.1:n.*305T>C
ENST00000456524.5:c.280T>C ENSP00000399001.1:p.Trp94Arg
ENST00000456524.6:c.457T>C ENSP00000399001.2:p.Trp153Arg
ENST00000642268.1:n.470T>C
ENST00000645700.1:c.151-589T>C ENSP00000495372.1:n.151-589T>C
ENST00000645923.1:c.-36T>C ENSP00000495010.1:n.-36T>C
ENST00000646591.1:c.316T>C ENSP00000496701.1:p.Trp106Arg
ENST00000647113.1:c.150+2734T>C ENSP00000494966.1:n.150+2734T>C
ENST00000676066.1:n.35-25T>C
XM_005246874.2:c.268T>C XP_005246931.1:p.Trp90Arg
XM_005246874.3:c.268T>C XP_005246931.1:p.Trp90Arg
XM_006712779.2:c.295T>C XP_006712842.1:p.Trp99Arg
XM_011511931.1:c.316T>C XP_011510233.1:p.Trp106Arg
XM_011511931.2:c.316T>C XP_011510233.1:p.Trp106Arg
XM_011511932.1:c.280T>C XP_011510234.1:p.Trp94Arg
XM_011511933.1:c.280T>C XP_011510235.1:p.Trp94Arg
XM_017005030.1:c.520T>C XP_016860519.1:p.Trp174Arg
XM_017005031.1:c.499T>C XP_016860520.1:p.Trp167Arg
XM_017005032.1:c.484T>C XP_016860521.1:p.Trp162Arg
XM_017005033.1:c.484T>C XP_016860522.1:p.Trp162Arg
XM_017005034.2:c.484T>C XP_016860523.1:p.Trp162Arg