Canonical Allele Identifier: CA5543062
Gene: SLC29A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1432623
ClinVar RCV Id: RCV001943996
dbSNP Id: rs146113694

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362010C>T , CM000672.2:g.71362010C>T GRCh38
NC_000010.10:g.73121767C>T , CM000672.1:g.73121767C>T GRCh37
NC_000010.9:g.72791773C>T NCBI36
NG_017066.1:g.47758C>T
NG_017066.2:g.47752C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2306C>T
ENST00000373189.6:c.830C>T MANE Select ENSP00000362285.5:p.Pro277Leu
ENST00000479577.2:c.596C>T ENSP00000493995.1:p.Pro199Leu
ENST00000642198.1:c.*402C>T ENSP00000494827.1:n.*402C>T
ENST00000642772.1:c.*94+5767C>T ENSP00000495041.1:n.*94+5767C>T
ENST00000643042.1:c.451C>T ENSP00000496674.1:n.451C>T
ENST00000643619.1:c.*413C>T ENSP00000494378.1:n.*413C>T
ENST00000643752.1:c.*156C>T ENSP00000495000.1:n.*156C>T
ENST00000644088.1:c.*151C>T ENSP00000494066.1:n.*151C>T
ENST00000644591.1:c.*156C>T ENSP00000496664.1:n.*156C>T
ENST00000644895.1:c.*99+5767C>T ENSP00000493872.1:n.*99+5767C>T
ENST00000645345.1:c.*402C>T ENSP00000495859.1:n.*402C>T
ENST00000647524.1:c.*413C>T ENSP00000495077.1:n.*413C>T
ENST00000373189.5:c.830C>T ENSP00000362285.5:p.Pro277Leu
ENST00000469204.1:n.327C>T
NM_001174098.1:c.*59C>T NP_001167569.1:n.*59C>T
NM_018344.5:c.830C>T NP_060814.4:p.Pro277Leu
NR_033413.1:n.804C>T
NR_033414.1:n.577C>T
XM_006717910.2:c.596C>T XP_006717973.1:p.Pro199Leu
NM_001363518.1:c.596C>T NP_001350447.1:p.Pro199Leu
XM_017016377.2:c.392C>T XP_016871866.1:p.Pro131Leu
XM_017016378.2:c.212C>T XP_016871867.1:p.Pro71Leu
NM_018344.6:c.830C>T MANE Select NP_060814.4:p.Pro277Leu
NM_001174098.2:c.*59C>T NP_001167569.1:n.*59C>T
NM_001363518.2:c.596C>T NP_001350447.1:p.Pro199Leu
NR_033413.2:n.798C>T
NR_033414.2:n.571C>T