Canonical Allele Identifier: CA2149207

Gene: SLC19A3

Linked Data

• ClinVar Variation Id: 334879
• ClinVar RCV Id: RCV001556309 ; RCV002521413
• dbSNP Id: rs747823282
• ExAC: 2:228563454 C / A
• gnomAD v2: 2-228563454-C-A
• gnomAD v3: 2-227698738-C-A
• gnomAD v4: 2-227698738-C-A
• MyVariant Identifiers: chr2:g.228563454C>A (hg19) ; chr2:g.227698738C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000258403.8:c.977G>T	ENSP00000258403.3:p.Gly326Val
ENST00000425817.6:c.*1002G>T	ENSP00000397393.2:n.*1002G>T
ENST00000431622.6:c.*1002G>T	ENSP00000400627.1:n.*1002G>T
ENST00000642268.1:n.1167G>T
ENST00000644224.2:c.977G>T MANE Select	ENSP00000495385.1:p.Gly326Val
ENST00000645700.1:c.*88G>T	ENSP00000495372.1:n.*88G>T
ENST00000645923.1:c.662G>T	ENSP00000495010.1:p.Gly221Val
ENST00000646591.1:c.1013G>T	ENSP00000496701.1:p.Gly338Val
ENST00000647113.1:c.151-2657G>T	ENSP00000494966.1:n.151-2657G>T
ENST00000676066.1:n.707G>T
ENST00000258403.7:c.977G>T	ENSP00000258403.3:p.Gly326Val
ENST00000409287.5:c.259+718G>T	ENSP00000386298.1:n.259+718G>T
ENST00000425817.5:c.977G>T	ENSP00000397393.1:p.Gly326Val
NM_025243.3:c.977G>T	NP_079519.1:p.Gly326Val
XM_005246874.2:c.965G>T	XP_005246931.1:p.Gly322Val
XM_006712779.2:c.992G>T	XP_006712842.1:p.Gly331Val
XM_011511931.1:c.1013G>T	XP_011510233.1:p.Gly338Val
XM_011511932.1:c.977G>T	XP_011510234.1:p.Gly326Val
XM_011511933.1:c.977G>T	XP_011510235.1:p.Gly326Val
XM_005246874.3:c.965G>T	XP_005246931.1:p.Gly322Val
XM_011511931.2:c.1013G>T	XP_011510233.1:p.Gly338Val
XM_017005030.1:c.1217G>T	XP_016860519.1:p.Gly406Val
XM_017005031.1:c.1196G>T	XP_016860520.1:p.Gly399Val
XM_017005032.1:c.1181G>T	XP_016860521.1:p.Gly394Val
XM_017005033.1:c.1181G>T	XP_016860522.1:p.Gly394Val
XM_017005034.2:c.1181G>T	XP_016860523.1:p.Gly394Val
NM_025243.4:c.977G>T MANE Select	NP_079519.1:p.Gly326Val
NM_001371411.1:c.977G>T	NP_001358340.1:p.Gly326Val
NM_001371412.1:c.977G>T	NP_001358341.1:p.Gly326Val
NM_001371413.1:c.965G>T	NP_001358342.1:p.Gly322Val
NM_001371414.1:c.965G>T	NP_001358343.1:p.Gly322Val