Canonical Allele Identifier: CA1918678337
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362078C= , CM000672.2:g.71362078C= GRCh38
NC_000010.10:g.73121835C= , CM000672.1:g.73121835C= GRCh37
NC_000010.9:g.72791841C= NCBI36
NG_017066.1:g.47826C=
NG_017066.2:g.47820C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2374C=
ENST00000373189.6:c.898C= MANE Select ENSP00000362285.5:p.Pro300=
ENST00000479577.2:c.664C= ENSP00000493995.1:p.Pro222=
ENST00000642198.1:c.*470C= ENSP00000494827.1:n.*470C=
ENST00000642772.1:c.*94+5835C= ENSP00000495041.1:n.*94+5835C=
ENST00000643042.1:c.519C= ENSP00000496674.1:n.519C=
ENST00000643619.1:c.*481C= ENSP00000494378.1:n.*481C=
ENST00000643752.1:c.*224C= ENSP00000495000.1:n.*224C=
ENST00000644088.1:c.*219C= ENSP00000494066.1:n.*219C=
ENST00000644591.1:c.*224C= ENSP00000496664.1:n.*224C=
ENST00000644895.1:c.*99+5835C= ENSP00000493872.1:n.*99+5835C=
ENST00000645345.1:c.*470C= ENSP00000495859.1:n.*470C=
ENST00000647524.1:c.*481C= ENSP00000495077.1:n.*481C=
ENST00000373189.5:c.898C= ENSP00000362285.5:p.Pro300=
ENST00000469204.1:n.395C=
NM_001174098.1:c.*127C= NP_001167569.1:n.*127C=
NM_018344.5:c.898C= NP_060814.4:p.Pro300=
NR_033413.1:n.872C=
NR_033414.1:n.645C=
XM_006717910.2:c.664C= XP_006717973.1:p.Pro222=
NM_001363518.1:c.664C= NP_001350447.1:p.Pro222=
XM_017016377.2:c.460C= XP_016871866.1:p.Pro154=
XM_017016378.2:c.280C= XP_016871867.1:p.Pro94=
NM_018344.6:c.898C= MANE Select NP_060814.4:p.Pro300=
NM_001174098.2:c.*127C= NP_001167569.1:n.*127C=
NM_001363518.2:c.664C= NP_001350447.1:p.Pro222=
NR_033413.2:n.866C=
NR_033414.2:n.639C=