Canonical Allele Identifier: CA377116969
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362350C>G , CM000672.2:g.71362350C>G GRCh38
NC_000010.10:g.73122107C>G , CM000672.1:g.73122107C>G GRCh37
NC_000010.9:g.72792113C>G NCBI36
NG_017066.1:g.48098C>G
NG_017066.2:g.48092C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2646C>G
ENST00000373189.6:c.1170C>G MANE Select ENSP00000362285.5:p.Ile390Met
ENST00000479577.2:c.936C>G ENSP00000493995.1:p.Ile312Met
ENST00000642198.1:c.*742C>G ENSP00000494827.1:n.*742C>G
ENST00000642772.1:c.*94+6107C>G ENSP00000495041.1:n.*94+6107C>G
ENST00000643042.1:c.791C>G ENSP00000496674.1:n.791C>G
ENST00000643619.1:c.*753C>G ENSP00000494378.1:n.*753C>G
ENST00000643752.1:c.*496C>G ENSP00000495000.1:n.*496C>G
ENST00000644088.1:c.*491C>G ENSP00000494066.1:n.*491C>G
ENST00000644591.1:c.*496C>G ENSP00000496664.1:n.*496C>G
ENST00000644895.1:c.*99+6107C>G ENSP00000493872.1:n.*99+6107C>G
ENST00000645345.1:c.*742C>G ENSP00000495859.1:n.*742C>G
ENST00000647524.1:c.*753C>G ENSP00000495077.1:n.*753C>G
ENST00000373189.5:c.1170C>G ENSP00000362285.5:p.Ile390Met
ENST00000469204.1:n.667C>G
NM_001174098.1:c.*399C>G NP_001167569.1:n.*399C>G
NM_018344.5:c.1170C>G NP_060814.4:p.Ile390Met
NR_033413.1:n.1144C>G
NR_033414.1:n.917C>G
XM_006717910.2:c.936C>G XP_006717973.1:p.Ile312Met
NM_001363518.1:c.936C>G NP_001350447.1:p.Ile312Met
XM_017016377.2:c.732C>G XP_016871866.1:p.Ile244Met
XM_017016378.2:c.552C>G XP_016871867.1:p.Ile184Met
NM_018344.6:c.1170C>G MANE Select NP_060814.4:p.Ile390Met
NM_001174098.2:c.*399C>G NP_001167569.1:n.*399C>G
NM_001363518.2:c.936C>G NP_001350447.1:p.Ile312Met
NR_033413.2:n.1138C>G
NR_033414.2:n.911C>G