Canonical Allele Identifier: CA350877145
Community Standard Title: NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227699240G>A , CM000664.2:g.227699240G>A GRCh38
NC_000002.11:g.228563956G>A , CM000664.1:g.228563956G>A GRCh37
NC_000002.10:g.228272200G>A NCBI36
NG_016359.1:g.23790C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.475C>T MANE Select NP_079519.1:p.Gln159Ter
ENST00000644224.2:c.475C>T MANE Select ENSP00000495385.1:p.Gln159Ter
NM_001371411.1:c.475C>T NP_001358340.1:p.Gln159Ter
NM_001371412.1:c.475C>T NP_001358341.1:p.Gln159Ter
NM_001371413.1:c.463C>T NP_001358342.1:p.Gln155Ter
NM_001371414.1:c.463C>T NP_001358343.1:p.Gln155Ter
NM_025243.3:c.475C>T NP_079519.1:p.Gln159Ter
ENST00000258403.7:c.475C>T ENSP00000258403.3:p.Gln159Ter
ENST00000258403.8:c.475C>T ENSP00000258403.3:p.Gln159Ter
ENST00000409287.5:c.259+216C>T ENSP00000386298.1:n.259+216C>T
ENST00000425817.5:c.475C>T ENSP00000397393.1:p.Gln159Ter
ENST00000425817.6:c.*500C>T ENSP00000397393.2:n.*500C>T
ENST00000431622.6:c.*500C>T ENSP00000400627.1:n.*500C>T
ENST00000456524.6:c.652C>T ENSP00000399001.2:p.Gln218Ter
ENST00000642268.1:n.665C>T
ENST00000645700.1:c.151-394C>T ENSP00000495372.1:n.151-394C>T
ENST00000645923.1:c.160C>T ENSP00000495010.1:p.Gln54Ter
ENST00000646591.1:c.511C>T ENSP00000496701.1:p.Gln171Ter
ENST00000647113.1:c.150+2929C>T ENSP00000494966.1:n.150+2929C>T
ENST00000676066.1:n.205C>T
XM_005246874.2:c.463C>T XP_005246931.1:p.Gln155Ter
XM_005246874.3:c.463C>T XP_005246931.1:p.Gln155Ter
XM_006712779.2:c.490C>T XP_006712842.1:p.Gln164Ter
XM_011511931.1:c.511C>T XP_011510233.1:p.Gln171Ter
XM_011511931.2:c.511C>T XP_011510233.1:p.Gln171Ter
XM_011511932.1:c.475C>T XP_011510234.1:p.Gln159Ter
XM_011511933.1:c.475C>T XP_011510235.1:p.Gln159Ter
XM_017005030.1:c.715C>T XP_016860519.1:p.Gln239Ter
XM_017005031.1:c.694C>T XP_016860520.1:p.Gln232Ter
XM_017005032.1:c.679C>T XP_016860521.1:p.Gln227Ter
XM_017005033.1:c.679C>T XP_016860522.1:p.Gln227Ter
XM_017005034.2:c.679C>T XP_016860523.1:p.Gln227Ter