Canonical Allele Identifier: CA350876231

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698821A>C , CM000664.2:g.227698821A>C	GRCh38
NC_000002.11:g.228563537A>C , CM000664.1:g.228563537A>C	GRCh37
NC_000002.10:g.228271781A>C	NCBI36
NG_016359.1:g.24209T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.894T>G MANE Select	NP_079519.1:p.Tyr298Ter
ENST00000644224.2:c.894T>G MANE Select	ENSP00000495385.1:p.Tyr298Ter
NM_001371411.1:c.894T>G	NP_001358340.1:p.Tyr298Ter
NM_001371412.1:c.894T>G	NP_001358341.1:p.Tyr298Ter
NM_001371413.1:c.882T>G	NP_001358342.1:p.Tyr294Ter
NM_001371414.1:c.882T>G	NP_001358343.1:p.Tyr294Ter
NM_025243.3:c.894T>G	NP_079519.1:p.Tyr298Ter
ENST00000258403.7:c.894T>G	ENSP00000258403.3:p.Tyr298Ter
ENST00000258403.8:c.894T>G	ENSP00000258403.3:p.Tyr298Ter
ENST00000409287.5:c.259+635T>G	ENSP00000386298.1:n.259+635T>G
ENST00000425817.5:c.894T>G	ENSP00000397393.1:p.Tyr298Ter
ENST00000425817.6:c.*919T>G	ENSP00000397393.2:n.*919T>G
ENST00000431622.6:c.*919T>G	ENSP00000400627.1:n.*919T>G
ENST00000642268.1:n.1084T>G
ENST00000645700.1:c.*5T>G	ENSP00000495372.1:n.*5T>G
ENST00000645923.1:c.579T>G	ENSP00000495010.1:p.Tyr193Ter
ENST00000646591.1:c.930T>G	ENSP00000496701.1:p.Tyr310Ter
ENST00000647113.1:c.151-2740T>G	ENSP00000494966.1:n.151-2740T>G
ENST00000676066.1:n.624T>G
XM_005246874.2:c.882T>G	XP_005246931.1:p.Tyr294Ter
XM_005246874.3:c.882T>G	XP_005246931.1:p.Tyr294Ter
XM_006712779.2:c.909T>G	XP_006712842.1:p.Tyr303Ter
XM_011511931.1:c.930T>G	XP_011510233.1:p.Tyr310Ter
XM_011511931.2:c.930T>G	XP_011510233.1:p.Tyr310Ter
XM_011511932.1:c.894T>G	XP_011510234.1:p.Tyr298Ter
XM_011511933.1:c.894T>G	XP_011510235.1:p.Tyr298Ter
XM_017005030.1:c.1134T>G	XP_016860519.1:p.Tyr378Ter
XM_017005031.1:c.1113T>G	XP_016860520.1:p.Tyr371Ter
XM_017005032.1:c.1098T>G	XP_016860521.1:p.Tyr366Ter
XM_017005033.1:c.1098T>G	XP_016860522.1:p.Tyr366Ter
XM_017005034.2:c.1098T>G	XP_016860523.1:p.Tyr366Ter