Canonical Allele Identifier: CA377114372
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362053T>G , CM000672.2:g.71362053T>G GRCh38
NC_000010.10:g.73121810T>G , CM000672.1:g.73121810T>G GRCh37
NC_000010.9:g.72791816T>G NCBI36
NG_017066.1:g.47801T>G
NG_017066.2:g.47795T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2349T>G
ENST00000373189.6:c.873T>G MANE Select ENSP00000362285.5:p.Ile291Met
ENST00000479577.2:c.639T>G ENSP00000493995.1:p.Ile213Met
ENST00000642198.1:c.*445T>G ENSP00000494827.1:n.*445T>G
ENST00000642772.1:c.*94+5810T>G ENSP00000495041.1:n.*94+5810T>G
ENST00000643042.1:c.494T>G ENSP00000496674.1:n.494T>G
ENST00000643619.1:c.*456T>G ENSP00000494378.1:n.*456T>G
ENST00000643752.1:c.*199T>G ENSP00000495000.1:n.*199T>G
ENST00000644088.1:c.*194T>G ENSP00000494066.1:n.*194T>G
ENST00000644591.1:c.*199T>G ENSP00000496664.1:n.*199T>G
ENST00000644895.1:c.*99+5810T>G ENSP00000493872.1:n.*99+5810T>G
ENST00000645345.1:c.*445T>G ENSP00000495859.1:n.*445T>G
ENST00000647524.1:c.*456T>G ENSP00000495077.1:n.*456T>G
ENST00000373189.5:c.873T>G ENSP00000362285.5:p.Ile291Met
ENST00000469204.1:n.370T>G
NM_001174098.1:c.*102T>G NP_001167569.1:n.*102T>G
NM_018344.5:c.873T>G NP_060814.4:p.Ile291Met
NR_033413.1:n.847T>G
NR_033414.1:n.620T>G
XM_006717910.2:c.639T>G XP_006717973.1:p.Ile213Met
NM_001363518.1:c.639T>G NP_001350447.1:p.Ile213Met
XM_017016377.2:c.435T>G XP_016871866.1:p.Ile145Met
XM_017016378.2:c.255T>G XP_016871867.1:p.Ile85Met
NM_018344.6:c.873T>G MANE Select NP_060814.4:p.Ile291Met
NM_001174098.2:c.*102T>G NP_001167569.1:n.*102T>G
NM_001363518.2:c.639T>G NP_001350447.1:p.Ile213Met
NR_033413.2:n.841T>G
NR_033414.2:n.614T>G