Canonical Allele Identifier: CA5543123
Gene: SLC29A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 967893
ClinVar RCV Id: RCV001242909
dbSNP Id: rs564770014

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362313C>T , CM000672.2:g.71362313C>T GRCh38
NC_000010.10:g.73122070C>T , CM000672.1:g.73122070C>T GRCh37
NC_000010.9:g.72792076C>T NCBI36
NG_017066.1:g.48061C>T
NG_017066.2:g.48055C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2609C>T
ENST00000373189.6:c.1133C>T MANE Select ENSP00000362285.5:p.Ala378Val
ENST00000479577.2:c.899C>T ENSP00000493995.1:p.Ala300Val
ENST00000642198.1:c.*705C>T ENSP00000494827.1:n.*705C>T
ENST00000642772.1:c.*94+6070C>T ENSP00000495041.1:n.*94+6070C>T
ENST00000643042.1:c.754C>T ENSP00000496674.1:n.754C>T
ENST00000643619.1:c.*716C>T ENSP00000494378.1:n.*716C>T
ENST00000643752.1:c.*459C>T ENSP00000495000.1:n.*459C>T
ENST00000644088.1:c.*454C>T ENSP00000494066.1:n.*454C>T
ENST00000644591.1:c.*459C>T ENSP00000496664.1:n.*459C>T
ENST00000644895.1:c.*99+6070C>T ENSP00000493872.1:n.*99+6070C>T
ENST00000645345.1:c.*705C>T ENSP00000495859.1:n.*705C>T
ENST00000647524.1:c.*716C>T ENSP00000495077.1:n.*716C>T
ENST00000373189.5:c.1133C>T ENSP00000362285.5:p.Ala378Val
ENST00000469204.1:n.630C>T
NM_001174098.1:c.*362C>T NP_001167569.1:n.*362C>T
NM_018344.5:c.1133C>T NP_060814.4:p.Ala378Val
NR_033413.1:n.1107C>T
NR_033414.1:n.880C>T
XM_006717910.2:c.899C>T XP_006717973.1:p.Ala300Val
NM_001363518.1:c.899C>T NP_001350447.1:p.Ala300Val
XM_017016377.2:c.695C>T XP_016871866.1:p.Ala232Val
XM_017016378.2:c.515C>T XP_016871867.1:p.Ala172Val
NM_018344.6:c.1133C>T MANE Select NP_060814.4:p.Ala378Val
NM_001174098.2:c.*362C>T NP_001167569.1:n.*362C>T
NM_001363518.2:c.899C>T NP_001350447.1:p.Ala300Val
NR_033413.2:n.1101C>T
NR_033414.2:n.874C>T