Canonical Allele Identifier: CA377113964
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71361998A>T , CM000672.2:g.71361998A>T GRCh38
NC_000010.10:g.73121755A>T , CM000672.1:g.73121755A>T GRCh37
NC_000010.9:g.72791761A>T NCBI36
NG_017066.1:g.47746A>T
NG_017066.2:g.47740A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2294A>T
ENST00000373189.6:c.818A>T MANE Select ENSP00000362285.5:p.Glu273Val
ENST00000479577.2:c.584A>T ENSP00000493995.1:p.Glu195Val
ENST00000642198.1:c.*390A>T ENSP00000494827.1:n.*390A>T
ENST00000642772.1:c.*94+5755A>T ENSP00000495041.1:n.*94+5755A>T
ENST00000643042.1:c.439A>T ENSP00000496674.1:n.439A>T
ENST00000643619.1:c.*401A>T ENSP00000494378.1:n.*401A>T
ENST00000643752.1:c.*144A>T ENSP00000495000.1:n.*144A>T
ENST00000644088.1:c.*139A>T ENSP00000494066.1:n.*139A>T
ENST00000644591.1:c.*144A>T ENSP00000496664.1:n.*144A>T
ENST00000644895.1:c.*99+5755A>T ENSP00000493872.1:n.*99+5755A>T
ENST00000645345.1:c.*390A>T ENSP00000495859.1:n.*390A>T
ENST00000647524.1:c.*401A>T ENSP00000495077.1:n.*401A>T
ENST00000373189.5:c.818A>T ENSP00000362285.5:p.Glu273Val
ENST00000469204.1:n.315A>T
NM_001174098.1:c.*47A>T NP_001167569.1:n.*47A>T
NM_018344.5:c.818A>T NP_060814.4:p.Glu273Val
NR_033413.1:n.792A>T
NR_033414.1:n.565A>T
XM_006717910.2:c.584A>T XP_006717973.1:p.Glu195Val
NM_001363518.1:c.584A>T NP_001350447.1:p.Glu195Val
XM_017016377.2:c.380A>T XP_016871866.1:p.Glu127Val
XM_017016378.2:c.200A>T XP_016871867.1:p.Glu67Val
NM_018344.6:c.818A>T MANE Select NP_060814.4:p.Glu273Val
NM_001174098.2:c.*47A>T NP_001167569.1:n.*47A>T
NM_001363518.2:c.584A>T NP_001350447.1:p.Glu195Val
NR_033413.2:n.786A>T
NR_033414.2:n.559A>T