Canonical Allele Identifier: CA66660417
Community Standard Title: NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227699167G>A , CM000664.2:g.227699167G>A GRCh38
NC_000002.11:g.228563883G>A , CM000664.1:g.228563883G>A GRCh37
NC_000002.10:g.228272127G>A NCBI36
NG_016359.1:g.23863C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.548C>T MANE Select NP_079519.1:p.Ala183Val
ENST00000644224.2:c.548C>T MANE Select ENSP00000495385.1:p.Ala183Val
NM_001371411.1:c.548C>T NP_001358340.1:p.Ala183Val
NM_001371412.1:c.548C>T NP_001358341.1:p.Ala183Val
NM_001371413.1:c.536C>T NP_001358342.1:p.Ala179Val
NM_001371414.1:c.536C>T NP_001358343.1:p.Ala179Val
NM_025243.3:c.548C>T NP_079519.1:p.Ala183Val
ENST00000258403.7:c.548C>T ENSP00000258403.3:p.Ala183Val
ENST00000258403.8:c.548C>T ENSP00000258403.3:p.Ala183Val
ENST00000409287.5:c.259+289C>T ENSP00000386298.1:n.259+289C>T
ENST00000425817.5:c.548C>T ENSP00000397393.1:p.Ala183Val
ENST00000425817.6:c.*573C>T ENSP00000397393.2:n.*573C>T
ENST00000431622.6:c.*573C>T ENSP00000400627.1:n.*573C>T
ENST00000642268.1:n.738C>T
ENST00000645700.1:c.151-321C>T ENSP00000495372.1:n.151-321C>T
ENST00000645923.1:c.233C>T ENSP00000495010.1:p.Ala78Val
ENST00000646591.1:c.584C>T ENSP00000496701.1:p.Ala195Val
ENST00000647113.1:c.150+3002C>T ENSP00000494966.1:n.150+3002C>T
ENST00000676066.1:n.278C>T
XM_005246874.2:c.536C>T XP_005246931.1:p.Ala179Val
XM_005246874.3:c.536C>T XP_005246931.1:p.Ala179Val
XM_006712779.2:c.563C>T XP_006712842.1:p.Ala188Val
XM_011511931.1:c.584C>T XP_011510233.1:p.Ala195Val
XM_011511931.2:c.584C>T XP_011510233.1:p.Ala195Val
XM_011511932.1:c.548C>T XP_011510234.1:p.Ala183Val
XM_011511933.1:c.548C>T XP_011510235.1:p.Ala183Val
XM_017005030.1:c.788C>T XP_016860519.1:p.Ala263Val
XM_017005031.1:c.767C>T XP_016860520.1:p.Ala256Val
XM_017005032.1:c.752C>T XP_016860521.1:p.Ala251Val
XM_017005033.1:c.752C>T XP_016860522.1:p.Ala251Val
XM_017005034.2:c.752C>T XP_016860523.1:p.Ala251Val