Canonical Allele Identifier: CA350876406

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698899G>T , CM000664.2:g.227698899G>T	GRCh38
NC_000002.11:g.228563615G>T , CM000664.1:g.228563615G>T	GRCh37
NC_000002.10:g.228271859G>T	NCBI36
NG_016359.1:g.24131C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.816C>A MANE Select	NP_079519.1:p.Cys272Ter
ENST00000644224.2:c.816C>A MANE Select	ENSP00000495385.1:p.Cys272Ter
NM_001371411.1:c.816C>A	NP_001358340.1:p.Cys272Ter
NM_001371412.1:c.816C>A	NP_001358341.1:p.Cys272Ter
NM_001371413.1:c.804C>A	NP_001358342.1:p.Cys268Ter
NM_001371414.1:c.804C>A	NP_001358343.1:p.Cys268Ter
NM_025243.3:c.816C>A	NP_079519.1:p.Cys272Ter
ENST00000258403.7:c.816C>A	ENSP00000258403.3:p.Cys272Ter
ENST00000258403.8:c.816C>A	ENSP00000258403.3:p.Cys272Ter
ENST00000409287.5:c.259+557C>A	ENSP00000386298.1:n.259+557C>A
ENST00000425817.5:c.816C>A	ENSP00000397393.1:p.Cys272Ter
ENST00000425817.6:c.*841C>A	ENSP00000397393.2:n.*841C>A
ENST00000431622.6:c.*841C>A	ENSP00000400627.1:n.*841C>A
ENST00000642268.1:n.1006C>A
ENST00000645700.1:c.151-53C>A	ENSP00000495372.1:n.151-53C>A
ENST00000645923.1:c.501C>A	ENSP00000495010.1:p.Cys167Ter
ENST00000646591.1:c.852C>A	ENSP00000496701.1:p.Cys284Ter
ENST00000647113.1:c.151-2818C>A	ENSP00000494966.1:n.151-2818C>A
ENST00000676066.1:n.546C>A
XM_005246874.2:c.804C>A	XP_005246931.1:p.Cys268Ter
XM_005246874.3:c.804C>A	XP_005246931.1:p.Cys268Ter
XM_006712779.2:c.831C>A	XP_006712842.1:p.Cys277Ter
XM_011511931.1:c.852C>A	XP_011510233.1:p.Cys284Ter
XM_011511931.2:c.852C>A	XP_011510233.1:p.Cys284Ter
XM_011511932.1:c.816C>A	XP_011510234.1:p.Cys272Ter
XM_011511933.1:c.816C>A	XP_011510235.1:p.Cys272Ter
XM_017005030.1:c.1056C>A	XP_016860519.1:p.Cys352Ter
XM_017005031.1:c.1035C>A	XP_016860520.1:p.Cys345Ter
XM_017005032.1:c.1020C>A	XP_016860521.1:p.Cys340Ter
XM_017005033.1:c.1020C>A	XP_016860522.1:p.Cys340Ter
XM_017005034.2:c.1020C>A	XP_016860523.1:p.Cys340Ter