Canonical Allele Identifier: CA377114152
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362022T>G , CM000672.2:g.71362022T>G GRCh38
NC_000010.10:g.73121779T>G , CM000672.1:g.73121779T>G GRCh37
NC_000010.9:g.72791785T>G NCBI36
NG_017066.1:g.47770T>G
NG_017066.2:g.47764T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2318T>G
ENST00000373189.6:c.842T>G MANE Select ENSP00000362285.5:p.Leu281Arg
ENST00000479577.2:c.608T>G ENSP00000493995.1:p.Leu203Arg
ENST00000642198.1:c.*414T>G ENSP00000494827.1:n.*414T>G
ENST00000642772.1:c.*94+5779T>G ENSP00000495041.1:n.*94+5779T>G
ENST00000643042.1:c.463T>G ENSP00000496674.1:n.463T>G
ENST00000643619.1:c.*425T>G ENSP00000494378.1:n.*425T>G
ENST00000643752.1:c.*168T>G ENSP00000495000.1:n.*168T>G
ENST00000644088.1:c.*163T>G ENSP00000494066.1:n.*163T>G
ENST00000644591.1:c.*168T>G ENSP00000496664.1:n.*168T>G
ENST00000644895.1:c.*99+5779T>G ENSP00000493872.1:n.*99+5779T>G
ENST00000645345.1:c.*414T>G ENSP00000495859.1:n.*414T>G
ENST00000647524.1:c.*425T>G ENSP00000495077.1:n.*425T>G
ENST00000373189.5:c.842T>G ENSP00000362285.5:p.Leu281Arg
ENST00000469204.1:n.339T>G
NM_001174098.1:c.*71T>G NP_001167569.1:n.*71T>G
NM_018344.5:c.842T>G NP_060814.4:p.Leu281Arg
NR_033413.1:n.816T>G
NR_033414.1:n.589T>G
XM_006717910.2:c.608T>G XP_006717973.1:p.Leu203Arg
NM_001363518.1:c.608T>G NP_001350447.1:p.Leu203Arg
XM_017016377.2:c.404T>G XP_016871866.1:p.Leu135Arg
XM_017016378.2:c.224T>G XP_016871867.1:p.Leu75Arg
NM_018344.6:c.842T>G MANE Select NP_060814.4:p.Leu281Arg
NM_001174098.2:c.*71T>G NP_001167569.1:n.*71T>G
NM_001363518.2:c.608T>G NP_001350447.1:p.Leu203Arg
NR_033413.2:n.810T>G
NR_033414.2:n.583T>G