Canonical Allele Identifier: CA253226
Community Standard Title: NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227702251C>A , CM000664.2:g.227702251C>A GRCh38
NC_000002.11:g.228566967C>A , CM000664.1:g.228566967C>A GRCh37
NC_000002.10:g.228275211C>A NCBI36
NG_016359.1:g.20779G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.68G>T MANE Select NP_079519.1:p.Gly23Val
ENST00000644224.2:c.68G>T MANE Select ENSP00000495385.1:p.Gly23Val
NM_001371411.1:c.68G>T NP_001358340.1:p.Gly23Val
NM_001371412.1:c.68G>T NP_001358341.1:p.Gly23Val
NM_001371413.1:c.-141G>T NP_001358342.1:n.-141G>T
NM_001371414.1:c.-141G>T NP_001358343.1:n.-141G>T
NM_025243.3:c.68G>T NP_079519.1:p.Gly23Val
ENST00000258403.7:c.68G>T ENSP00000258403.3:p.Gly23Val
ENST00000258403.8:c.68G>T ENSP00000258403.3:p.Gly23Val
ENST00000409287.5:c.68G>T ENSP00000386298.1:p.Gly23Val
ENST00000409456.2:c.68G>T ENSP00000387193.2:p.Gly23Val
ENST00000419059.1:c.68G>T ENSP00000398349.1:p.Gly23Val
ENST00000425817.5:c.68G>T ENSP00000397393.1:p.Gly23Val
ENST00000425817.6:c.68G>T ENSP00000397393.2:p.Gly23Val
ENST00000431622.5:c.68G>T ENSP00000400627.1:p.Gly23Val
ENST00000431622.6:c.68G>T ENSP00000400627.1:p.Gly23Val
ENST00000456524.5:c.68G>T ENSP00000399001.1:p.Gly23Val
ENST00000456524.6:c.245G>T ENSP00000399001.2:p.Gly82Val
ENST00000477697.1:n.127G>T
ENST00000645700.1:c.68G>T ENSP00000495372.1:p.Gly23Val
ENST00000645923.1:c.-165-2687G>T ENSP00000495010.1:n.-165-2687G>T
ENST00000646591.1:c.104G>T ENSP00000496701.1:p.Gly35Val
ENST00000647113.1:c.68G>T ENSP00000494966.1:p.Gly23Val
XM_005246874.2:c.-141G>T XP_005246931.1:n.-141G>T
XM_005246874.3:c.-141G>T XP_005246931.1:n.-141G>T
XM_006712779.2:c.83G>T XP_006712842.1:p.Gly28Val
XM_011511931.1:c.104G>T XP_011510233.1:p.Gly35Val
XM_011511931.2:c.104G>T XP_011510233.1:p.Gly35Val
XM_011511932.1:c.68G>T XP_011510234.1:p.Gly23Val
XM_011511933.1:c.68G>T XP_011510235.1:p.Gly23Val
XM_017005030.1:c.104G>T XP_016860519.1:p.Gly35Val
XM_017005031.1:c.83G>T XP_016860520.1:p.Gly28Val
XM_017005032.1:c.68G>T XP_016860521.1:p.Gly23Val
XM_017005033.1:c.68G>T XP_016860522.1:p.Gly23Val
XM_017005034.2:c.68G>T XP_016860523.1:p.Gly23Val