Canonical Allele Identifier: CA321539

Gene: SLC19A3

Linked Data

• ClinVar Variation Id: 215158
• ClinVar RCV Id: RCV000197098
• dbSNP Id: rs863224204
• gnomAD v2: 2-228552272-G-C
• gnomAD v4: 2-227687556-G-C
• MyVariant Identifiers: chr2:g.228552272G>C (hg19) ; chr2:g.227687556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227687556G>C , CM000664.2:g.227687556G>C	GRCh38
NC_000002.11:g.228552272G>C , CM000664.1:g.228552272G>C	GRCh37
NC_000002.10:g.228260516G>C	NCBI36
NG_016359.1:g.35474C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258403.8:c.1332C>G	ENSP00000258403.3:p.Ser444Arg
ENST00000425817.6:c.*1357C>G	ENSP00000397393.2:n.*1357C>G
ENST00000431622.6:c.*1357C>G	ENSP00000400627.1:n.*1357C>G
ENST00000642268.1:n.1522C>G
ENST00000644224.2:c.1332C>G MANE Select	ENSP00000495385.1:p.Ser444Arg
ENST00000645700.1:c.*443C>G	ENSP00000495372.1:n.*443C>G
ENST00000645923.1:c.*526C>G	ENSP00000495010.1:n.*526C>G
ENST00000646591.1:c.1368C>G	ENSP00000496701.1:p.Ser456Arg
ENST00000647113.1:c.*320C>G	ENSP00000494966.1:n.*320C>G
ENST00000676066.1:n.1062C>G
ENST00000258403.7:c.1332C>G	ENSP00000258403.3:p.Ser444Arg
ENST00000409287.5:c.260-1387C>G	ENSP00000386298.1:n.260-1387C>G
ENST00000425817.5:c.1332C>G	ENSP00000397393.1:p.Ser444Arg
NM_025243.3:c.1332C>G	NP_079519.1:p.Ser444Arg
XM_005246874.2:c.1320C>G	XP_005246931.1:p.Ser440Arg
XM_006712779.2:c.1347C>G	XP_006712842.1:p.Ser449Arg
XM_011511931.1:c.1368C>G	XP_011510233.1:p.Ser456Arg
XM_011511932.1:c.1332C>G	XP_011510234.1:p.Ser444Arg
XM_011511933.1:c.1332C>G	XP_011510235.1:p.Ser444Arg
XM_005246874.3:c.1320C>G	XP_005246931.1:p.Ser440Arg
XM_011511931.2:c.1368C>G	XP_011510233.1:p.Ser456Arg
XM_017005030.1:c.1572C>G	XP_016860519.1:p.Ser524Arg
XM_017005031.1:c.1551C>G	XP_016860520.1:p.Ser517Arg
XM_017005032.1:c.1536C>G	XP_016860521.1:p.Ser512Arg
XM_017005033.1:c.1536C>G	XP_016860522.1:p.Ser512Arg
XM_017005034.2:c.1536C>G	XP_016860523.1:p.Ser512Arg
NM_025243.4:c.1332C>G MANE Select	NP_079519.1:p.Ser444Arg
NM_001371411.1:c.1332C>G	NP_001358340.1:p.Ser444Arg
NM_001371412.1:c.1332C>G	NP_001358341.1:p.Ser444Arg
NM_001371413.1:c.1320C>G	NP_001358342.1:p.Ser440Arg
NM_001371414.1:c.1320C>G	NP_001358343.1:p.Ser440Arg