Canonical Allele Identifier: CA323377

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227695907A>C , CM000664.2:g.227695907A>C	GRCh38
NC_000002.11:g.228560623A>C , CM000664.1:g.228560623A>C	GRCh37
NC_000002.10:g.228268867A>C	NCBI36
NG_016359.1:g.27123T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.1154T>G MANE Select	NP_079519.1:p.Leu385Arg
ENST00000644224.2:c.1154T>G MANE Select	ENSP00000495385.1:p.Leu385Arg
NM_001371411.1:c.1154T>G	NP_001358340.1:p.Leu385Arg
NM_001371412.1:c.1154T>G	NP_001358341.1:p.Leu385Arg
NM_001371413.1:c.1142T>G	NP_001358342.1:p.Leu381Arg
NM_001371414.1:c.1142T>G	NP_001358343.1:p.Leu381Arg
NM_025243.3:c.1154T>G	NP_079519.1:p.Leu385Arg
ENST00000258403.7:c.1154T>G	ENSP00000258403.3:p.Leu385Arg
ENST00000258403.8:c.1154T>G	ENSP00000258403.3:p.Leu385Arg
ENST00000409287.5:c.259+3549T>G	ENSP00000386298.1:n.259+3549T>G
ENST00000425817.5:c.1154T>G	ENSP00000397393.1:p.Leu385Arg
ENST00000425817.6:c.*1179T>G	ENSP00000397393.2:n.*1179T>G
ENST00000431622.6:c.*1179T>G	ENSP00000400627.1:n.*1179T>G
ENST00000642268.1:n.1344T>G
ENST00000645700.1:c.*265T>G	ENSP00000495372.1:n.*265T>G
ENST00000645923.1:c.839T>G	ENSP00000495010.1:p.Leu280Arg
ENST00000646591.1:c.1190T>G	ENSP00000496701.1:p.Leu397Arg
ENST00000647113.1:c.*142T>G	ENSP00000494966.1:n.*142T>G
ENST00000676066.1:n.884T>G
XM_005246874.2:c.1142T>G	XP_005246931.1:p.Leu381Arg
XM_005246874.3:c.1142T>G	XP_005246931.1:p.Leu381Arg
XM_006712779.2:c.1169T>G	XP_006712842.1:p.Leu390Arg
XM_011511931.1:c.1190T>G	XP_011510233.1:p.Leu397Arg
XM_011511931.2:c.1190T>G	XP_011510233.1:p.Leu397Arg
XM_011511932.1:c.1154T>G	XP_011510234.1:p.Leu385Arg
XM_011511933.1:c.1154T>G	XP_011510235.1:p.Leu385Arg
XM_017005030.1:c.1394T>G	XP_016860519.1:p.Leu465Arg
XM_017005031.1:c.1373T>G	XP_016860520.1:p.Leu458Arg
XM_017005032.1:c.1358T>G	XP_016860521.1:p.Leu453Arg
XM_017005033.1:c.1358T>G	XP_016860522.1:p.Leu453Arg
XM_017005034.2:c.1358T>G	XP_016860523.1:p.Leu453Arg