Canonical Allele Identifier: CA377114604
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362084C>G , CM000672.2:g.71362084C>G GRCh38
NC_000010.10:g.73121841C>G , CM000672.1:g.73121841C>G GRCh37
NC_000010.9:g.72791847C>G NCBI36
NG_017066.1:g.47832C>G
NG_017066.2:g.47826C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2380C>G
ENST00000373189.6:c.904C>G MANE Select ENSP00000362285.5:p.Leu302Val
ENST00000479577.2:c.670C>G ENSP00000493995.1:p.Leu224Val
ENST00000642198.1:c.*476C>G ENSP00000494827.1:n.*476C>G
ENST00000642772.1:c.*94+5841C>G ENSP00000495041.1:n.*94+5841C>G
ENST00000643042.1:c.525C>G ENSP00000496674.1:n.525C>G
ENST00000643619.1:c.*487C>G ENSP00000494378.1:n.*487C>G
ENST00000643752.1:c.*230C>G ENSP00000495000.1:n.*230C>G
ENST00000644088.1:c.*225C>G ENSP00000494066.1:n.*225C>G
ENST00000644591.1:c.*230C>G ENSP00000496664.1:n.*230C>G
ENST00000644895.1:c.*99+5841C>G ENSP00000493872.1:n.*99+5841C>G
ENST00000645345.1:c.*476C>G ENSP00000495859.1:n.*476C>G
ENST00000647524.1:c.*487C>G ENSP00000495077.1:n.*487C>G
ENST00000373189.5:c.904C>G ENSP00000362285.5:p.Leu302Val
ENST00000469204.1:n.401C>G
NM_001174098.1:c.*133C>G NP_001167569.1:n.*133C>G
NM_018344.5:c.904C>G NP_060814.4:p.Leu302Val
NR_033413.1:n.878C>G
NR_033414.1:n.651C>G
XM_006717910.2:c.670C>G XP_006717973.1:p.Leu224Val
NM_001363518.1:c.670C>G NP_001350447.1:p.Leu224Val
XM_017016377.2:c.466C>G XP_016871866.1:p.Leu156Val
XM_017016378.2:c.286C>G XP_016871867.1:p.Leu96Val
NM_018344.6:c.904C>G MANE Select NP_060814.4:p.Leu302Val
NM_001174098.2:c.*133C>G NP_001167569.1:n.*133C>G
NM_001363518.2:c.670C>G NP_001350447.1:p.Leu224Val
NR_033413.2:n.872C>G
NR_033414.2:n.645C>G