Canonical Allele Identifier: CA350875430

Gene: SLC19A3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.1264A>C MANE Select	NP_079519.1:p.Thr422Pro
ENST00000644224.2:c.1264A>C MANE Select	ENSP00000495385.1:p.Thr422Pro
NM_001371411.1:c.1264A>C	NP_001358340.1:p.Thr422Pro
NM_001371412.1:c.1264A>C	NP_001358341.1:p.Thr422Pro
NM_001371413.1:c.1252A>C	NP_001358342.1:p.Thr418Pro
NM_001371414.1:c.1252A>C	NP_001358343.1:p.Thr418Pro
NM_025243.3:c.1264A>C	NP_079519.1:p.Thr422Pro
ENST00000258403.7:c.1264A>C	ENSP00000258403.3:p.Thr422Pro
ENST00000258403.8:c.1264A>C	ENSP00000258403.3:p.Thr422Pro
ENST00000409287.5:c.260-2047A>C	ENSP00000386298.1:n.260-2047A>C
ENST00000425817.5:c.1264A>C	ENSP00000397393.1:p.Thr422Pro
ENST00000425817.6:c.*1289A>C	ENSP00000397393.2:n.*1289A>C
ENST00000431622.6:c.*1289A>C	ENSP00000400627.1:n.*1289A>C
ENST00000642268.1:n.1454A>C
ENST00000645700.1:c.*375A>C	ENSP00000495372.1:n.*375A>C
ENST00000645923.1:c.*458A>C	ENSP00000495010.1:n.*458A>C
ENST00000646591.1:c.1300A>C	ENSP00000496701.1:p.Thr434Pro
ENST00000647113.1:c.*252A>C	ENSP00000494966.1:n.*252A>C
ENST00000676066.1:n.994A>C
XM_005246874.2:c.1252A>C	XP_005246931.1:p.Thr418Pro
XM_005246874.3:c.1252A>C	XP_005246931.1:p.Thr418Pro
XM_006712779.2:c.1279A>C	XP_006712842.1:p.Thr427Pro
XM_011511931.1:c.1300A>C	XP_011510233.1:p.Thr434Pro
XM_011511931.2:c.1300A>C	XP_011510233.1:p.Thr434Pro
XM_011511932.1:c.1264A>C	XP_011510234.1:p.Thr422Pro
XM_011511933.1:c.1264A>C	XP_011510235.1:p.Thr422Pro
XM_017005030.1:c.1504A>C	XP_016860519.1:p.Thr502Pro
XM_017005031.1:c.1483A>C	XP_016860520.1:p.Thr495Pro
XM_017005032.1:c.1468A>C	XP_016860521.1:p.Thr490Pro
XM_017005033.1:c.1468A>C	XP_016860522.1:p.Thr490Pro
XM_017005034.2:c.1468A>C	XP_016860523.1:p.Thr490Pro