Canonical Allele Identifier: CA5543153
Gene: SLC29A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 572794
ClinVar RCV Id: RCV000694269
dbSNP Id: rs144517514

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362399G>A , CM000672.2:g.71362399G>A GRCh38
NC_000010.10:g.73122156G>A , CM000672.1:g.73122156G>A GRCh37
NC_000010.9:g.72792162G>A NCBI36
NG_017066.1:g.48147G>A
NG_017066.2:g.48141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2695G>A
ENST00000373189.6:c.1219G>A MANE Select ENSP00000362285.5:p.Val407Met
ENST00000479577.2:c.985G>A ENSP00000493995.1:p.Val329Met
ENST00000642198.1:c.*791G>A ENSP00000494827.1:n.*791G>A
ENST00000642772.1:c.*94+6156G>A ENSP00000495041.1:n.*94+6156G>A
ENST00000643042.1:c.840G>A ENSP00000496674.1:n.840G>A
ENST00000643619.1:c.*802G>A ENSP00000494378.1:n.*802G>A
ENST00000643752.1:c.*545G>A ENSP00000495000.1:n.*545G>A
ENST00000644088.1:c.*540G>A ENSP00000494066.1:n.*540G>A
ENST00000644591.1:c.*545G>A ENSP00000496664.1:n.*545G>A
ENST00000644895.1:c.*99+6156G>A ENSP00000493872.1:n.*99+6156G>A
ENST00000645345.1:c.*791G>A ENSP00000495859.1:n.*791G>A
ENST00000647524.1:c.*802G>A ENSP00000495077.1:n.*802G>A
ENST00000373189.5:c.1219G>A ENSP00000362285.5:p.Val407Met
ENST00000469204.1:n.716G>A
NM_001174098.1:c.*448G>A NP_001167569.1:n.*448G>A
NM_018344.5:c.1219G>A NP_060814.4:p.Val407Met
NR_033413.1:n.1193G>A
NR_033414.1:n.966G>A
XM_006717910.2:c.985G>A XP_006717973.1:p.Val329Met
NM_001363518.1:c.985G>A NP_001350447.1:p.Val329Met
XM_017016377.2:c.781G>A XP_016871866.1:p.Val261Met
XM_017016378.2:c.601G>A XP_016871867.1:p.Val201Met
NM_018344.6:c.1219G>A MANE Select NP_060814.4:p.Val407Met
NM_001174098.2:c.*448G>A NP_001167569.1:n.*448G>A
NM_001363518.2:c.985G>A NP_001350447.1:p.Val329Met
NR_033413.2:n.1187G>A
NR_033414.2:n.960G>A