Canonical Allele Identifier: CA377117264
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362496A>G , CM000672.2:g.71362496A>G GRCh38
NC_000010.10:g.73122253A>G , CM000672.1:g.73122253A>G GRCh37
NC_000010.9:g.72792259A>G NCBI36
NG_017066.1:g.48244A>G
NG_017066.2:g.48238A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697843.1:n.2792A>G
ENST00000373189.6:c.1316A>G MANE Select ENSP00000362285.5:p.Lys439Arg
ENST00000479577.2:c.1082A>G ENSP00000493995.1:p.Lys361Arg
ENST00000642198.1:c.*888A>G ENSP00000494827.1:n.*888A>G
ENST00000642772.1:c.*94+6253A>G ENSP00000495041.1:n.*94+6253A>G
ENST00000643042.1:c.937A>G ENSP00000496674.1:n.937A>G
ENST00000643619.1:c.*899A>G ENSP00000494378.1:n.*899A>G
ENST00000643752.1:c.*642A>G ENSP00000495000.1:n.*642A>G
ENST00000644088.1:c.*637A>G ENSP00000494066.1:n.*637A>G
ENST00000644591.1:c.*642A>G ENSP00000496664.1:n.*642A>G
ENST00000644895.1:c.*99+6253A>G ENSP00000493872.1:n.*99+6253A>G
ENST00000645345.1:c.*888A>G ENSP00000495859.1:n.*888A>G
ENST00000647524.1:c.*899A>G ENSP00000495077.1:n.*899A>G
ENST00000373189.5:c.1316A>G ENSP00000362285.5:p.Lys439Arg
ENST00000469204.1:n.813A>G
NM_001174098.1:c.*545A>G NP_001167569.1:n.*545A>G
NM_018344.5:c.1316A>G NP_060814.4:p.Lys439Arg
NR_033413.1:n.1290A>G
NR_033414.1:n.1063A>G
XM_006717910.2:c.1082A>G XP_006717973.1:p.Lys361Arg
NM_001363518.1:c.1082A>G NP_001350447.1:p.Lys361Arg
XM_017016377.2:c.878A>G XP_016871866.1:p.Lys293Arg
XM_017016378.2:c.698A>G XP_016871867.1:p.Lys233Arg
NM_018344.6:c.1316A>G MANE Select NP_060814.4:p.Lys439Arg
NM_001174098.2:c.*545A>G NP_001167569.1:n.*545A>G
NM_001363518.2:c.1082A>G NP_001350447.1:p.Lys361Arg
NR_033413.2:n.1284A>G
NR_033414.2:n.1057A>G