Canonical Allele Identifier: CA350877807

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227699555C>A , CM000664.2:g.227699555C>A	GRCh38
NC_000002.11:g.228564271C>A , CM000664.1:g.228564271C>A	GRCh37
NC_000002.10:g.228272515C>A	NCBI36
NG_016359.1:g.23475G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.160G>T MANE Select	NP_079519.1:p.Glu54Ter
ENST00000644224.2:c.160G>T MANE Select	ENSP00000495385.1:p.Glu54Ter
NM_001371411.1:c.160G>T	NP_001358340.1:p.Glu54Ter
NM_001371412.1:c.160G>T	NP_001358341.1:p.Glu54Ter
NM_001371413.1:c.148G>T	NP_001358342.1:p.Glu50Ter
NM_001371414.1:c.148G>T	NP_001358343.1:p.Glu50Ter
NM_025243.3:c.160G>T	NP_079519.1:p.Glu54Ter
ENST00000258403.7:c.160G>T	ENSP00000258403.3:p.Glu54Ter
ENST00000258403.8:c.160G>T	ENSP00000258403.3:p.Glu54Ter
ENST00000409287.5:c.160G>T	ENSP00000386298.1:p.Glu54Ter
ENST00000409456.2:c.160G>T	ENSP00000387193.2:p.Glu54Ter
ENST00000419059.1:c.160G>T	ENSP00000398349.1:p.Glu54Ter
ENST00000425817.5:c.160G>T	ENSP00000397393.1:p.Glu54Ter
ENST00000425817.6:c.*185G>T	ENSP00000397393.2:n.*185G>T
ENST00000431622.5:c.*185G>T	ENSP00000400627.1:n.*185G>T
ENST00000431622.6:c.*185G>T	ENSP00000400627.1:n.*185G>T
ENST00000456524.5:c.160G>T	ENSP00000399001.1:p.Glu54Ter
ENST00000456524.6:c.337G>T	ENSP00000399001.2:p.Glu113Ter
ENST00000642268.1:n.350G>T
ENST00000645700.1:c.151-709G>T	ENSP00000495372.1:n.151-709G>T
ENST00000645923.1:c.-156G>T	ENSP00000495010.1:n.-156G>T
ENST00000646591.1:c.196G>T	ENSP00000496701.1:p.Glu66Ter
ENST00000647113.1:c.150+2614G>T	ENSP00000494966.1:n.150+2614G>T
ENST00000676066.1:n.35-145G>T
XM_005246874.2:c.148G>T	XP_005246931.1:p.Glu50Ter
XM_005246874.3:c.148G>T	XP_005246931.1:p.Glu50Ter
XM_006712779.2:c.175G>T	XP_006712842.1:p.Glu59Ter
XM_011511931.1:c.196G>T	XP_011510233.1:p.Glu66Ter
XM_011511931.2:c.196G>T	XP_011510233.1:p.Glu66Ter
XM_011511932.1:c.160G>T	XP_011510234.1:p.Glu54Ter
XM_011511933.1:c.160G>T	XP_011510235.1:p.Glu54Ter
XM_017005030.1:c.400G>T	XP_016860519.1:p.Glu134Ter
XM_017005031.1:c.379G>T	XP_016860520.1:p.Glu127Ter
XM_017005032.1:c.364G>T	XP_016860521.1:p.Glu122Ter
XM_017005033.1:c.364G>T	XP_016860522.1:p.Glu122Ter
XM_017005034.2:c.364G>T	XP_016860523.1:p.Glu122Ter