Canonical Allele Identifier: CA377117740
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362565C>G , CM000672.2:g.71362565C>G GRCh38
NC_000010.10:g.73122322C>G , CM000672.1:g.73122322C>G GRCh37
NC_000010.9:g.72792328C>G NCBI36
NG_017066.1:g.48313C>G
NG_017066.2:g.48307C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2861C>G
ENST00000373189.6:c.1385C>G MANE Select ENSP00000362285.5:p.Thr462Arg
ENST00000479577.2:c.1151C>G ENSP00000493995.1:p.Thr384Arg
ENST00000642198.1:c.*957C>G ENSP00000494827.1:n.*957C>G
ENST00000642772.1:c.*94+6322C>G ENSP00000495041.1:n.*94+6322C>G
ENST00000643042.1:c.1006C>G ENSP00000496674.1:n.1006C>G
ENST00000643619.1:c.*968C>G ENSP00000494378.1:n.*968C>G
ENST00000643752.1:c.*711C>G ENSP00000495000.1:n.*711C>G
ENST00000644088.1:c.*706C>G ENSP00000494066.1:n.*706C>G
ENST00000644591.1:c.*711C>G ENSP00000496664.1:n.*711C>G
ENST00000644895.1:c.*99+6322C>G ENSP00000493872.1:n.*99+6322C>G
ENST00000645345.1:c.*957C>G ENSP00000495859.1:n.*957C>G
ENST00000647524.1:c.*968C>G ENSP00000495077.1:n.*968C>G
ENST00000373189.5:c.1385C>G ENSP00000362285.5:p.Thr462Arg
NM_001174098.1:c.*614C>G NP_001167569.1:n.*614C>G
NM_018344.5:c.1385C>G NP_060814.4:p.Thr462Arg
NR_033413.1:n.1359C>G
NR_033414.1:n.1132C>G
XM_006717910.2:c.1151C>G XP_006717973.1:p.Thr384Arg
NM_001363518.1:c.1151C>G NP_001350447.1:p.Thr384Arg
XM_017016377.2:c.947C>G XP_016871866.1:p.Thr316Arg
XM_017016378.2:c.767C>G XP_016871867.1:p.Thr256Arg
NM_018344.6:c.1385C>G MANE Select NP_060814.4:p.Thr462Arg
NM_001174098.2:c.*614C>G NP_001167569.1:n.*614C>G
NM_001363518.2:c.1151C>G NP_001350447.1:p.Thr384Arg
NR_033413.2:n.1353C>G
NR_033414.2:n.1126C>G