Canonical Allele Identifier: CA2149230

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698914T>C , CM000664.2:g.227698914T>C	GRCh38
NC_000002.11:g.228563630T>C , CM000664.1:g.228563630T>C	GRCh37
NC_000002.10:g.228271874T>C	NCBI36
NG_016359.1:g.24116A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.801A>G MANE Select	NP_079519.1:p.Gln267=
ENST00000644224.2:c.801A>G MANE Select	ENSP00000495385.1:p.Gln267=
NM_001371411.1:c.801A>G	NP_001358340.1:p.Gln267=
NM_001371412.1:c.801A>G	NP_001358341.1:p.Gln267=
NM_001371413.1:c.789A>G	NP_001358342.1:p.Gln263=
NM_001371414.1:c.789A>G	NP_001358343.1:p.Gln263=
NM_025243.3:c.801A>G	NP_079519.1:p.Gln267=
ENST00000258403.7:c.801A>G	ENSP00000258403.3:p.Gln267=
ENST00000258403.8:c.801A>G	ENSP00000258403.3:p.Gln267=
ENST00000409287.5:c.259+542A>G	ENSP00000386298.1:n.259+542A>G
ENST00000425817.5:c.801A>G	ENSP00000397393.1:p.Gln267=
ENST00000425817.6:c.*826A>G	ENSP00000397393.2:n.*826A>G
ENST00000431622.6:c.*826A>G	ENSP00000400627.1:n.*826A>G
ENST00000642268.1:n.991A>G
ENST00000645700.1:c.151-68A>G	ENSP00000495372.1:n.151-68A>G
ENST00000645923.1:c.486A>G	ENSP00000495010.1:p.Gln162=
ENST00000646591.1:c.837A>G	ENSP00000496701.1:p.Gln279=
ENST00000647113.1:c.151-2833A>G	ENSP00000494966.1:n.151-2833A>G
ENST00000676066.1:n.531A>G
XM_005246874.2:c.789A>G	XP_005246931.1:p.Gln263=
XM_005246874.3:c.789A>G	XP_005246931.1:p.Gln263=
XM_006712779.2:c.816A>G	XP_006712842.1:p.Gln272=
XM_011511931.1:c.837A>G	XP_011510233.1:p.Gln279=
XM_011511931.2:c.837A>G	XP_011510233.1:p.Gln279=
XM_011511932.1:c.801A>G	XP_011510234.1:p.Gln267=
XM_011511933.1:c.801A>G	XP_011510235.1:p.Gln267=
XM_017005030.1:c.1041A>G	XP_016860519.1:p.Gln347=
XM_017005031.1:c.1020A>G	XP_016860520.1:p.Gln340=
XM_017005032.1:c.1005A>G	XP_016860521.1:p.Gln335=
XM_017005033.1:c.1005A>G	XP_016860522.1:p.Gln335=
XM_017005034.2:c.1005A>G	XP_016860523.1:p.Gln335=