Canonical Allele Identifier: CA2588846845
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362178_71362182dup , CM000672.2:g.71362178_71362182dup GRCh38
NC_000010.10:g.73121935_73121939dup , CM000672.1:g.73121935_73121939dup GRCh37
NC_000010.9:g.72791941_72791945dup NCBI36
NG_017066.1:g.47926_47930dup
NG_017066.2:g.47920_47924dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2474_2478dup
ENST00000373189.6:c.998_1002dup MANE Select ENSP00000362285.5:p.Lys335SerfsTer?
ENST00000479577.2:c.764_768dup ENSP00000493995.1:p.Lys257SerfsTer?
ENST00000642198.1:c.*570_*574dup ENSP00000494827.1:n.*570_*574dup
ENST00000642772.1:c.*94+5935_*94+5939dup ENSP00000495041.1:n.*94+5935_*94+5939dup
ENST00000643042.1:c.619_623dup ENSP00000496674.1:n.619_623dup
ENST00000643619.1:c.*581_*585dup ENSP00000494378.1:n.*581_*585dup
ENST00000643752.1:c.*324_*328dup ENSP00000495000.1:n.*324_*328dup
ENST00000644088.1:c.*319_*323dup ENSP00000494066.1:n.*319_*323dup
ENST00000644591.1:c.*324_*328dup ENSP00000496664.1:n.*324_*328dup
ENST00000644895.1:c.*99+5935_*99+5939dup ENSP00000493872.1:n.*99+5935_*99+5939dup
ENST00000645345.1:c.*570_*574dup ENSP00000495859.1:n.*570_*574dup
ENST00000647524.1:c.*581_*585dup ENSP00000495077.1:n.*581_*585dup
ENST00000373189.5:c.998_1002dup ENSP00000362285.5:p.Lys335SerfsTer?
ENST00000469204.1:n.495_499dup
NM_001174098.1:c.*227_*231dup NP_001167569.1:n.*227_*231dup
NM_018344.5:c.998_1002dup NP_060814.4:p.Lys335SerfsTer?
NR_033413.1:n.972_976dup
NR_033414.1:n.745_749dup
XM_006717910.2:c.764_768dup XP_006717973.1:p.Lys257SerfsTer?
NM_001363518.1:c.764_768dup NP_001350447.1:p.Lys257SerfsTer?
XM_017016377.2:c.560_564dup XP_016871866.1:p.Lys189SerfsTer?
XM_017016378.2:c.380_384dup XP_016871867.1:p.Lys129SerfsTer?
NM_018344.6:c.998_1002dup MANE Select NP_060814.4:p.Lys335SerfsTer?
NM_001174098.2:c.*227_*231dup NP_001167569.1:n.*227_*231dup
NM_001363518.2:c.764_768dup NP_001350447.1:p.Lys257SerfsTer?
NR_033413.2:n.966_970dup
NR_033414.2:n.739_743dup