Canonical Allele Identifier: CA377117306
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362505C>A , CM000672.2:g.71362505C>A GRCh38
NC_000010.10:g.73122262C>A , CM000672.1:g.73122262C>A GRCh37
NC_000010.9:g.72792268C>A NCBI36
NG_017066.1:g.48253C>A
NG_017066.2:g.48247C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697843.1:n.2801C>A
ENST00000373189.6:c.1325C>A MANE Select ENSP00000362285.5:p.Pro442His
ENST00000479577.2:c.1091C>A ENSP00000493995.1:p.Pro364His
ENST00000642198.1:c.*897C>A ENSP00000494827.1:n.*897C>A
ENST00000642772.1:c.*94+6262C>A ENSP00000495041.1:n.*94+6262C>A
ENST00000643042.1:c.946C>A ENSP00000496674.1:n.946C>A
ENST00000643619.1:c.*908C>A ENSP00000494378.1:n.*908C>A
ENST00000643752.1:c.*651C>A ENSP00000495000.1:n.*651C>A
ENST00000644088.1:c.*646C>A ENSP00000494066.1:n.*646C>A
ENST00000644591.1:c.*651C>A ENSP00000496664.1:n.*651C>A
ENST00000644895.1:c.*99+6262C>A ENSP00000493872.1:n.*99+6262C>A
ENST00000645345.1:c.*897C>A ENSP00000495859.1:n.*897C>A
ENST00000647524.1:c.*908C>A ENSP00000495077.1:n.*908C>A
ENST00000373189.5:c.1325C>A ENSP00000362285.5:p.Pro442His
ENST00000469204.1:n.822C>A
NM_001174098.1:c.*554C>A NP_001167569.1:n.*554C>A
NM_018344.5:c.1325C>A NP_060814.4:p.Pro442His
NR_033413.1:n.1299C>A
NR_033414.1:n.1072C>A
XM_006717910.2:c.1091C>A XP_006717973.1:p.Pro364His
NM_001363518.1:c.1091C>A NP_001350447.1:p.Pro364His
XM_017016377.2:c.887C>A XP_016871866.1:p.Pro296His
XM_017016378.2:c.707C>A XP_016871867.1:p.Pro236His
NM_018344.6:c.1325C>A MANE Select NP_060814.4:p.Pro442His
NM_001174098.2:c.*554C>A NP_001167569.1:n.*554C>A
NM_001363518.2:c.1091C>A NP_001350447.1:p.Pro364His
NR_033413.2:n.1293C>A
NR_033414.2:n.1066C>A