Canonical Allele Identifier: CA377115047
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362126T>A , CM000672.2:g.71362126T>A GRCh38
NC_000010.10:g.73121883T>A , CM000672.1:g.73121883T>A GRCh37
NC_000010.9:g.72791889T>A NCBI36
NG_017066.1:g.47874T>A
NG_017066.2:g.47868T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2422T>A
ENST00000373189.6:c.946T>A MANE Select ENSP00000362285.5:p.Phe316Ile
ENST00000479577.2:c.712T>A ENSP00000493995.1:p.Phe238Ile
ENST00000642198.1:c.*518T>A ENSP00000494827.1:n.*518T>A
ENST00000642772.1:c.*94+5883T>A ENSP00000495041.1:n.*94+5883T>A
ENST00000643042.1:c.567T>A ENSP00000496674.1:n.567T>A
ENST00000643619.1:c.*529T>A ENSP00000494378.1:n.*529T>A
ENST00000643752.1:c.*272T>A ENSP00000495000.1:n.*272T>A
ENST00000644088.1:c.*267T>A ENSP00000494066.1:n.*267T>A
ENST00000644591.1:c.*272T>A ENSP00000496664.1:n.*272T>A
ENST00000644895.1:c.*99+5883T>A ENSP00000493872.1:n.*99+5883T>A
ENST00000645345.1:c.*518T>A ENSP00000495859.1:n.*518T>A
ENST00000647524.1:c.*529T>A ENSP00000495077.1:n.*529T>A
ENST00000373189.5:c.946T>A ENSP00000362285.5:p.Phe316Ile
ENST00000469204.1:n.443T>A
NM_001174098.1:c.*175T>A NP_001167569.1:n.*175T>A
NM_018344.5:c.946T>A NP_060814.4:p.Phe316Ile
NR_033413.1:n.920T>A
NR_033414.1:n.693T>A
XM_006717910.2:c.712T>A XP_006717973.1:p.Phe238Ile
NM_001363518.1:c.712T>A NP_001350447.1:p.Phe238Ile
XM_017016377.2:c.508T>A XP_016871866.1:p.Phe170Ile
XM_017016378.2:c.328T>A XP_016871867.1:p.Phe110Ile
NM_018344.6:c.946T>A MANE Select NP_060814.4:p.Phe316Ile
NM_001174098.2:c.*175T>A NP_001167569.1:n.*175T>A
NM_001363518.2:c.712T>A NP_001350447.1:p.Phe238Ile
NR_033413.2:n.914T>A
NR_033414.2:n.687T>A