Canonical Allele Identifier: CA350877332
Community Standard Title: NM_025243.4(SLC19A3):c.384C>A (p.Tyr128Ter)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227699331G>T , CM000664.2:g.227699331G>T GRCh38
NC_000002.11:g.228564047G>T , CM000664.1:g.228564047G>T GRCh37
NC_000002.10:g.228272291G>T NCBI36
NG_016359.1:g.23699C>A

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.384C>A MANE Select NP_079519.1:p.Tyr128Ter
ENST00000644224.2:c.384C>A MANE Select ENSP00000495385.1:p.Tyr128Ter
NM_001371411.1:c.384C>A NP_001358340.1:p.Tyr128Ter
NM_001371412.1:c.384C>A NP_001358341.1:p.Tyr128Ter
NM_001371413.1:c.372C>A NP_001358342.1:p.Tyr124Ter
NM_001371414.1:c.372C>A NP_001358343.1:p.Tyr124Ter
NM_025243.3:c.384C>A NP_079519.1:p.Tyr128Ter
ENST00000258403.7:c.384C>A ENSP00000258403.3:p.Tyr128Ter
ENST00000258403.8:c.384C>A ENSP00000258403.3:p.Tyr128Ter
ENST00000409287.5:c.259+125C>A ENSP00000386298.1:n.259+125C>A
ENST00000425817.5:c.384C>A ENSP00000397393.1:p.Tyr128Ter
ENST00000425817.6:c.*409C>A ENSP00000397393.2:n.*409C>A
ENST00000431622.6:c.*409C>A ENSP00000400627.1:n.*409C>A
ENST00000456524.5:c.384C>A ENSP00000399001.1:p.Tyr128Ter
ENST00000456524.6:c.561C>A ENSP00000399001.2:p.Tyr187Ter
ENST00000642268.1:n.574C>A
ENST00000645700.1:c.151-485C>A ENSP00000495372.1:n.151-485C>A
ENST00000645923.1:c.69C>A ENSP00000495010.1:p.Tyr23Ter
ENST00000646591.1:c.420C>A ENSP00000496701.1:p.Tyr140Ter
ENST00000647113.1:c.150+2838C>A ENSP00000494966.1:n.150+2838C>A
ENST00000676066.1:n.114C>A
XM_005246874.2:c.372C>A XP_005246931.1:p.Tyr124Ter
XM_005246874.3:c.372C>A XP_005246931.1:p.Tyr124Ter
XM_006712779.2:c.399C>A XP_006712842.1:p.Tyr133Ter
XM_011511931.1:c.420C>A XP_011510233.1:p.Tyr140Ter
XM_011511931.2:c.420C>A XP_011510233.1:p.Tyr140Ter
XM_011511932.1:c.384C>A XP_011510234.1:p.Tyr128Ter
XM_011511933.1:c.384C>A XP_011510235.1:p.Tyr128Ter
XM_017005030.1:c.624C>A XP_016860519.1:p.Tyr208Ter
XM_017005031.1:c.603C>A XP_016860520.1:p.Tyr201Ter
XM_017005032.1:c.588C>A XP_016860521.1:p.Tyr196Ter
XM_017005033.1:c.588C>A XP_016860522.1:p.Tyr196Ter
XM_017005034.2:c.588C>A XP_016860523.1:p.Tyr196Ter