Canonical Allele Identifier: CA2149210

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698774A>G , CM000664.2:g.227698774A>G	GRCh38
NC_000002.11:g.228563490A>G , CM000664.1:g.228563490A>G	GRCh37
NC_000002.10:g.228271734A>G	NCBI36
NG_016359.1:g.24256T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.941T>C MANE Select	NP_079519.1:p.Ile314Thr
ENST00000644224.2:c.941T>C MANE Select	ENSP00000495385.1:p.Ile314Thr
NM_001371411.1:c.941T>C	NP_001358340.1:p.Ile314Thr
NM_001371412.1:c.941T>C	NP_001358341.1:p.Ile314Thr
NM_001371413.1:c.929T>C	NP_001358342.1:p.Ile310Thr
NM_001371414.1:c.929T>C	NP_001358343.1:p.Ile310Thr
NM_025243.3:c.941T>C	NP_079519.1:p.Ile314Thr
ENST00000258403.7:c.941T>C	ENSP00000258403.3:p.Ile314Thr
ENST00000258403.8:c.941T>C	ENSP00000258403.3:p.Ile314Thr
ENST00000409287.5:c.259+682T>C	ENSP00000386298.1:n.259+682T>C
ENST00000425817.5:c.941T>C	ENSP00000397393.1:p.Ile314Thr
ENST00000425817.6:c.*966T>C	ENSP00000397393.2:n.*966T>C
ENST00000431622.6:c.*966T>C	ENSP00000400627.1:n.*966T>C
ENST00000642268.1:n.1131T>C
ENST00000645700.1:c.*52T>C	ENSP00000495372.1:n.*52T>C
ENST00000645923.1:c.626T>C	ENSP00000495010.1:p.Ile209Thr
ENST00000646591.1:c.977T>C	ENSP00000496701.1:p.Ile326Thr
ENST00000647113.1:c.151-2693T>C	ENSP00000494966.1:n.151-2693T>C
ENST00000676066.1:n.671T>C
XM_005246874.2:c.929T>C	XP_005246931.1:p.Ile310Thr
XM_005246874.3:c.929T>C	XP_005246931.1:p.Ile310Thr
XM_006712779.2:c.956T>C	XP_006712842.1:p.Ile319Thr
XM_011511931.1:c.977T>C	XP_011510233.1:p.Ile326Thr
XM_011511931.2:c.977T>C	XP_011510233.1:p.Ile326Thr
XM_011511932.1:c.941T>C	XP_011510234.1:p.Ile314Thr
XM_011511933.1:c.941T>C	XP_011510235.1:p.Ile314Thr
XM_017005030.1:c.1181T>C	XP_016860519.1:p.Ile394Thr
XM_017005031.1:c.1160T>C	XP_016860520.1:p.Ile387Thr
XM_017005032.1:c.1145T>C	XP_016860521.1:p.Ile382Thr
XM_017005033.1:c.1145T>C	XP_016860522.1:p.Ile382Thr
XM_017005034.2:c.1145T>C	XP_016860523.1:p.Ile382Thr