Canonical Allele Identifier: CA321122

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227699053T>G , CM000664.2:g.227699053T>G	GRCh38
NC_000002.11:g.228563769T>G , CM000664.1:g.228563769T>G	GRCh37
NC_000002.10:g.228272013T>G	NCBI36
NG_016359.1:g.23977A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.662A>C MANE Select	NP_079519.1:p.His221Pro
ENST00000644224.2:c.662A>C MANE Select	ENSP00000495385.1:p.His221Pro
NM_001371411.1:c.662A>C	NP_001358340.1:p.His221Pro
NM_001371412.1:c.662A>C	NP_001358341.1:p.His221Pro
NM_001371413.1:c.650A>C	NP_001358342.1:p.His217Pro
NM_001371414.1:c.650A>C	NP_001358343.1:p.His217Pro
NM_025243.3:c.662A>C	NP_079519.1:p.His221Pro
ENST00000258403.7:c.662A>C	ENSP00000258403.3:p.His221Pro
ENST00000258403.8:c.662A>C	ENSP00000258403.3:p.His221Pro
ENST00000409287.5:c.259+403A>C	ENSP00000386298.1:n.259+403A>C
ENST00000425817.5:c.662A>C	ENSP00000397393.1:p.His221Pro
ENST00000425817.6:c.*687A>C	ENSP00000397393.2:n.*687A>C
ENST00000431622.6:c.*687A>C	ENSP00000400627.1:n.*687A>C
ENST00000642268.1:n.852A>C
ENST00000645700.1:c.151-207A>C	ENSP00000495372.1:n.151-207A>C
ENST00000645923.1:c.347A>C	ENSP00000495010.1:p.His116Pro
ENST00000646591.1:c.698A>C	ENSP00000496701.1:p.His233Pro
ENST00000647113.1:c.151-2972A>C	ENSP00000494966.1:n.151-2972A>C
ENST00000676066.1:n.392A>C
XM_005246874.2:c.650A>C	XP_005246931.1:p.His217Pro
XM_005246874.3:c.650A>C	XP_005246931.1:p.His217Pro
XM_006712779.2:c.677A>C	XP_006712842.1:p.His226Pro
XM_011511931.1:c.698A>C	XP_011510233.1:p.His233Pro
XM_011511931.2:c.698A>C	XP_011510233.1:p.His233Pro
XM_011511932.1:c.662A>C	XP_011510234.1:p.His221Pro
XM_011511933.1:c.662A>C	XP_011510235.1:p.His221Pro
XM_017005030.1:c.902A>C	XP_016860519.1:p.His301Pro
XM_017005031.1:c.881A>C	XP_016860520.1:p.His294Pro
XM_017005032.1:c.866A>C	XP_016860521.1:p.His289Pro
XM_017005033.1:c.866A>C	XP_016860522.1:p.His289Pro
XM_017005034.2:c.866A>C	XP_016860523.1:p.His289Pro