Canonical Allele Identifier: CA1918678377
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362161C= , CM000672.2:g.71362161C= GRCh38
NC_000010.10:g.73121918C= , CM000672.1:g.73121918C= GRCh37
NC_000010.9:g.72791924C= NCBI36
NG_017066.1:g.47909C=
NG_017066.2:g.47903C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2457C=
ENST00000373189.6:c.981C= MANE Select ENSP00000362285.5:p.Cys327=
ENST00000479577.2:c.747C= ENSP00000493995.1:p.Cys249=
ENST00000642198.1:c.*553C= ENSP00000494827.1:n.*553C=
ENST00000642772.1:c.*94+5918C= ENSP00000495041.1:n.*94+5918C=
ENST00000643042.1:c.602C= ENSP00000496674.1:n.602C=
ENST00000643619.1:c.*564C= ENSP00000494378.1:n.*564C=
ENST00000643752.1:c.*307C= ENSP00000495000.1:n.*307C=
ENST00000644088.1:c.*302C= ENSP00000494066.1:n.*302C=
ENST00000644591.1:c.*307C= ENSP00000496664.1:n.*307C=
ENST00000644895.1:c.*99+5918C= ENSP00000493872.1:n.*99+5918C=
ENST00000645345.1:c.*553C= ENSP00000495859.1:n.*553C=
ENST00000647524.1:c.*564C= ENSP00000495077.1:n.*564C=
ENST00000373189.5:c.981C= ENSP00000362285.5:p.Cys327=
ENST00000469204.1:n.478C=
NM_001174098.1:c.*210C= NP_001167569.1:n.*210C=
NM_018344.5:c.981C= NP_060814.4:p.Cys327=
NR_033413.1:n.955C=
NR_033414.1:n.728C=
XM_006717910.2:c.747C= XP_006717973.1:p.Cys249=
NM_001363518.1:c.747C= NP_001350447.1:p.Cys249=
XM_017016377.2:c.543C= XP_016871866.1:p.Cys181=
XM_017016378.2:c.363C= XP_016871867.1:p.Cys121=
NM_018344.6:c.981C= MANE Select NP_060814.4:p.Cys327=
NM_001174098.2:c.*210C= NP_001167569.1:n.*210C=
NM_001363518.2:c.747C= NP_001350447.1:p.Cys249=
NR_033413.2:n.949C=
NR_033414.2:n.722C=