Canonical Allele Identifier: CA2149127
Community Standard Title: NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227688276G>A , CM000664.2:g.227688276G>A GRCh38
NC_000002.11:g.228552992G>A , CM000664.1:g.228552992G>A GRCh37
NC_000002.10:g.228261236G>A NCBI36
NG_016359.1:g.34754C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.1204C>T MANE Select NP_079519.1:p.Arg402Cys
ENST00000644224.2:c.1204C>T MANE Select ENSP00000495385.1:p.Arg402Cys
NM_001371411.1:c.1204C>T NP_001358340.1:p.Arg402Cys
NM_001371412.1:c.1204C>T NP_001358341.1:p.Arg402Cys
NM_001371413.1:c.1192C>T NP_001358342.1:p.Arg398Cys
NM_001371414.1:c.1192C>T NP_001358343.1:p.Arg398Cys
NM_025243.3:c.1204C>T NP_079519.1:p.Arg402Cys
ENST00000258403.7:c.1204C>T ENSP00000258403.3:p.Arg402Cys
ENST00000258403.8:c.1204C>T ENSP00000258403.3:p.Arg402Cys
ENST00000409287.5:c.260-2107C>T ENSP00000386298.1:n.260-2107C>T
ENST00000425817.5:c.1204C>T ENSP00000397393.1:p.Arg402Cys
ENST00000425817.6:c.*1229C>T ENSP00000397393.2:n.*1229C>T
ENST00000431622.6:c.*1229C>T ENSP00000400627.1:n.*1229C>T
ENST00000642268.1:n.1394C>T
ENST00000645700.1:c.*315C>T ENSP00000495372.1:n.*315C>T
ENST00000645923.1:c.*398C>T ENSP00000495010.1:n.*398C>T
ENST00000646591.1:c.1240C>T ENSP00000496701.1:p.Arg414Cys
ENST00000647113.1:c.*192C>T ENSP00000494966.1:n.*192C>T
ENST00000676066.1:n.934C>T
XM_005246874.2:c.1192C>T XP_005246931.1:p.Arg398Cys
XM_005246874.3:c.1192C>T XP_005246931.1:p.Arg398Cys
XM_006712779.2:c.1219C>T XP_006712842.1:p.Arg407Cys
XM_011511931.1:c.1240C>T XP_011510233.1:p.Arg414Cys
XM_011511931.2:c.1240C>T XP_011510233.1:p.Arg414Cys
XM_011511932.1:c.1204C>T XP_011510234.1:p.Arg402Cys
XM_011511933.1:c.1204C>T XP_011510235.1:p.Arg402Cys
XM_017005030.1:c.1444C>T XP_016860519.1:p.Arg482Cys
XM_017005031.1:c.1423C>T XP_016860520.1:p.Arg475Cys
XM_017005032.1:c.1408C>T XP_016860521.1:p.Arg470Cys
XM_017005033.1:c.1408C>T XP_016860522.1:p.Arg470Cys
XM_017005034.2:c.1408C>T XP_016860523.1:p.Arg470Cys