Canonical Allele Identifier: CA350876332

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698865A>G , CM000664.2:g.227698865A>G	GRCh38
NC_000002.11:g.228563581A>G , CM000664.1:g.228563581A>G	GRCh37
NC_000002.10:g.228271825A>G	NCBI36
NG_016359.1:g.24165T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.850T>C MANE Select	NP_079519.1:p.Trp284Arg
ENST00000644224.2:c.850T>C MANE Select	ENSP00000495385.1:p.Trp284Arg
NM_001371411.1:c.850T>C	NP_001358340.1:p.Trp284Arg
NM_001371412.1:c.850T>C	NP_001358341.1:p.Trp284Arg
NM_001371413.1:c.838T>C	NP_001358342.1:p.Trp280Arg
NM_001371414.1:c.838T>C	NP_001358343.1:p.Trp280Arg
NM_025243.3:c.850T>C	NP_079519.1:p.Trp284Arg
ENST00000258403.7:c.850T>C	ENSP00000258403.3:p.Trp284Arg
ENST00000258403.8:c.850T>C	ENSP00000258403.3:p.Trp284Arg
ENST00000409287.5:c.259+591T>C	ENSP00000386298.1:n.259+591T>C
ENST00000425817.5:c.850T>C	ENSP00000397393.1:p.Trp284Arg
ENST00000425817.6:c.*875T>C	ENSP00000397393.2:n.*875T>C
ENST00000431622.6:c.*875T>C	ENSP00000400627.1:n.*875T>C
ENST00000642268.1:n.1040T>C
ENST00000645700.1:c.151-19T>C	ENSP00000495372.1:n.151-19T>C
ENST00000645923.1:c.535T>C	ENSP00000495010.1:p.Trp179Arg
ENST00000646591.1:c.886T>C	ENSP00000496701.1:p.Trp296Arg
ENST00000647113.1:c.151-2784T>C	ENSP00000494966.1:n.151-2784T>C
ENST00000676066.1:n.580T>C
XM_005246874.2:c.838T>C	XP_005246931.1:p.Trp280Arg
XM_005246874.3:c.838T>C	XP_005246931.1:p.Trp280Arg
XM_006712779.2:c.865T>C	XP_006712842.1:p.Trp289Arg
XM_011511931.1:c.886T>C	XP_011510233.1:p.Trp296Arg
XM_011511931.2:c.886T>C	XP_011510233.1:p.Trp296Arg
XM_011511932.1:c.850T>C	XP_011510234.1:p.Trp284Arg
XM_011511933.1:c.850T>C	XP_011510235.1:p.Trp284Arg
XM_017005030.1:c.1090T>C	XP_016860519.1:p.Trp364Arg
XM_017005031.1:c.1069T>C	XP_016860520.1:p.Trp357Arg
XM_017005032.1:c.1054T>C	XP_016860521.1:p.Trp352Arg
XM_017005033.1:c.1054T>C	XP_016860522.1:p.Trp352Arg
XM_017005034.2:c.1054T>C	XP_016860523.1:p.Trp352Arg