Canonical Allele Identifier: CA66660044

Gene: SLC19A3

Linked Data

• dbSNP Id: rs747823282
• gnomAD v4: 2-227698738-C-T
• COSMIC: COSM5895615 ; COSM5895616
• MyVariant Identifiers: chr2:g.228563454C>T (hg19) ; chr2:g.227698738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698738C>T , CM000664.2:g.227698738C>T	GRCh38
NC_000002.11:g.228563454C>T , CM000664.1:g.228563454C>T	GRCh37
NC_000002.10:g.228271698C>T	NCBI36
NG_016359.1:g.24292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258403.8:c.977G>A	ENSP00000258403.3:p.Gly326Glu
ENST00000425817.6:c.*1002G>A	ENSP00000397393.2:n.*1002G>A
ENST00000431622.6:c.*1002G>A	ENSP00000400627.1:n.*1002G>A
ENST00000642268.1:n.1167G>A
ENST00000644224.2:c.977G>A MANE Select	ENSP00000495385.1:p.Gly326Glu
ENST00000645700.1:c.*88G>A	ENSP00000495372.1:n.*88G>A
ENST00000645923.1:c.662G>A	ENSP00000495010.1:p.Gly221Glu
ENST00000646591.1:c.1013G>A	ENSP00000496701.1:p.Gly338Glu
ENST00000647113.1:c.151-2657G>A	ENSP00000494966.1:n.151-2657G>A
ENST00000676066.1:n.707G>A
ENST00000258403.7:c.977G>A	ENSP00000258403.3:p.Gly326Glu
ENST00000409287.5:c.259+718G>A	ENSP00000386298.1:n.259+718G>A
ENST00000425817.5:c.977G>A	ENSP00000397393.1:p.Gly326Glu
NM_025243.3:c.977G>A	NP_079519.1:p.Gly326Glu
XM_005246874.2:c.965G>A	XP_005246931.1:p.Gly322Glu
XM_006712779.2:c.992G>A	XP_006712842.1:p.Gly331Glu
XM_011511931.1:c.1013G>A	XP_011510233.1:p.Gly338Glu
XM_011511932.1:c.977G>A	XP_011510234.1:p.Gly326Glu
XM_011511933.1:c.977G>A	XP_011510235.1:p.Gly326Glu
XM_005246874.3:c.965G>A	XP_005246931.1:p.Gly322Glu
XM_011511931.2:c.1013G>A	XP_011510233.1:p.Gly338Glu
XM_017005030.1:c.1217G>A	XP_016860519.1:p.Gly406Glu
XM_017005031.1:c.1196G>A	XP_016860520.1:p.Gly399Glu
XM_017005032.1:c.1181G>A	XP_016860521.1:p.Gly394Glu
XM_017005033.1:c.1181G>A	XP_016860522.1:p.Gly394Glu
XM_017005034.2:c.1181G>A	XP_016860523.1:p.Gly394Glu
NM_025243.4:c.977G>A MANE Select	NP_079519.1:p.Gly326Glu
NM_001371411.1:c.977G>A	NP_001358340.1:p.Gly326Glu
NM_001371412.1:c.977G>A	NP_001358341.1:p.Gly326Glu
NM_001371413.1:c.965G>A	NP_001358342.1:p.Gly322Glu
NM_001371414.1:c.965G>A	NP_001358343.1:p.Gly322Glu