Canonical Allele Identifier: CA253227

Gene: SLC19A3

Linked Data

• ClinVar Variation Id: 4563
• ClinVar RCV Id: RCV000004825 ; RCV000489300 ; RCV002512775 ; RCV004527286
• dbSNP Id: rs121917884
• gnomAD v4: 2-227688216-T-C
• MyVariant Identifiers: chr2:g.228552932T>C (hg19) ; chr2:g.227688216T>C (hg38)
• PubMed: PMID:15871139 ; PMID:16790503 ; PMID:29236641

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227688216T>C , CM000664.2:g.227688216T>C	GRCh38
NC_000002.11:g.228552932T>C , CM000664.1:g.228552932T>C	GRCh37
NC_000002.10:g.228261176T>C	NCBI36
NG_016359.1:g.34814A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258403.8:c.1264A>G	ENSP00000258403.3:p.Thr422Ala
ENST00000425817.6:c.*1289A>G	ENSP00000397393.2:n.*1289A>G
ENST00000431622.6:c.*1289A>G	ENSP00000400627.1:n.*1289A>G
ENST00000642268.1:n.1454A>G
ENST00000644224.2:c.1264A>G MANE Select	ENSP00000495385.1:p.Thr422Ala
ENST00000645700.1:c.*375A>G	ENSP00000495372.1:n.*375A>G
ENST00000645923.1:c.*458A>G	ENSP00000495010.1:n.*458A>G
ENST00000646591.1:c.1300A>G	ENSP00000496701.1:p.Thr434Ala
ENST00000647113.1:c.*252A>G	ENSP00000494966.1:n.*252A>G
ENST00000676066.1:n.994A>G
ENST00000258403.7:c.1264A>G	ENSP00000258403.3:p.Thr422Ala
ENST00000409287.5:c.260-2047A>G	ENSP00000386298.1:n.260-2047A>G
ENST00000425817.5:c.1264A>G	ENSP00000397393.1:p.Thr422Ala
NM_025243.3:c.1264A>G	NP_079519.1:p.Thr422Ala
XM_005246874.2:c.1252A>G	XP_005246931.1:p.Thr418Ala
XM_006712779.2:c.1279A>G	XP_006712842.1:p.Thr427Ala
XM_011511931.1:c.1300A>G	XP_011510233.1:p.Thr434Ala
XM_011511932.1:c.1264A>G	XP_011510234.1:p.Thr422Ala
XM_011511933.1:c.1264A>G	XP_011510235.1:p.Thr422Ala
XM_005246874.3:c.1252A>G	XP_005246931.1:p.Thr418Ala
XM_011511931.2:c.1300A>G	XP_011510233.1:p.Thr434Ala
XM_017005030.1:c.1504A>G	XP_016860519.1:p.Thr502Ala
XM_017005031.1:c.1483A>G	XP_016860520.1:p.Thr495Ala
XM_017005032.1:c.1468A>G	XP_016860521.1:p.Thr490Ala
XM_017005033.1:c.1468A>G	XP_016860522.1:p.Thr490Ala
XM_017005034.2:c.1468A>G	XP_016860523.1:p.Thr490Ala
NM_025243.4:c.1264A>G MANE Select	NP_079519.1:p.Thr422Ala
NM_001371411.1:c.1264A>G	NP_001358340.1:p.Thr422Ala
NM_001371412.1:c.1264A>G	NP_001358341.1:p.Thr422Ala
NM_001371413.1:c.1252A>G	NP_001358342.1:p.Thr418Ala
NM_001371414.1:c.1252A>G	NP_001358343.1:p.Thr418Ala