Canonical Allele Identifier: CA320642
Community Standard Title: NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227695949G>A , CM000664.2:g.227695949G>A GRCh38
NC_000002.11:g.228560665G>A , CM000664.1:g.228560665G>A GRCh37
NC_000002.10:g.228268909G>A NCBI36
NG_016359.1:g.27081C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.1112C>T MANE Select NP_079519.1:p.Ala371Val
ENST00000644224.2:c.1112C>T MANE Select ENSP00000495385.1:p.Ala371Val
NM_001371411.1:c.1112C>T NP_001358340.1:p.Ala371Val
NM_001371412.1:c.1112C>T NP_001358341.1:p.Ala371Val
NM_001371413.1:c.1100C>T NP_001358342.1:p.Ala367Val
NM_001371414.1:c.1100C>T NP_001358343.1:p.Ala367Val
NM_025243.3:c.1112C>T NP_079519.1:p.Ala371Val
ENST00000258403.7:c.1112C>T ENSP00000258403.3:p.Ala371Val
ENST00000258403.8:c.1112C>T ENSP00000258403.3:p.Ala371Val
ENST00000409287.5:c.259+3507C>T ENSP00000386298.1:n.259+3507C>T
ENST00000425817.5:c.1112C>T ENSP00000397393.1:p.Ala371Val
ENST00000425817.6:c.*1137C>T ENSP00000397393.2:n.*1137C>T
ENST00000431622.6:c.*1137C>T ENSP00000400627.1:n.*1137C>T
ENST00000642268.1:n.1302C>T
ENST00000645700.1:c.*223C>T ENSP00000495372.1:n.*223C>T
ENST00000645923.1:c.797C>T ENSP00000495010.1:p.Ala266Val
ENST00000646591.1:c.1148C>T ENSP00000496701.1:p.Ala383Val
ENST00000647113.1:c.*100C>T ENSP00000494966.1:n.*100C>T
ENST00000676066.1:n.842C>T
XM_005246874.2:c.1100C>T XP_005246931.1:p.Ala367Val
XM_005246874.3:c.1100C>T XP_005246931.1:p.Ala367Val
XM_006712779.2:c.1127C>T XP_006712842.1:p.Ala376Val
XM_011511931.1:c.1148C>T XP_011510233.1:p.Ala383Val
XM_011511931.2:c.1148C>T XP_011510233.1:p.Ala383Val
XM_011511932.1:c.1112C>T XP_011510234.1:p.Ala371Val
XM_011511933.1:c.1112C>T XP_011510235.1:p.Ala371Val
XM_017005030.1:c.1352C>T XP_016860519.1:p.Ala451Val
XM_017005031.1:c.1331C>T XP_016860520.1:p.Ala444Val
XM_017005032.1:c.1316C>T XP_016860521.1:p.Ala439Val
XM_017005033.1:c.1316C>T XP_016860522.1:p.Ala439Val
XM_017005034.2:c.1316C>T XP_016860523.1:p.Ala439Val