Canonical Allele Identifier: CA2609558735
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362733G>C , CM000672.2:g.71362733G>C GRCh38
NC_000010.10:g.73122490G>C , CM000672.1:g.73122490G>C GRCh37
NC_000010.9:g.72792496G>C NCBI36
NG_017066.1:g.48481G>C
NG_017066.2:g.48475G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.3029G>C
ENST00000373189.6:c.*125G>C MANE Select ENSP00000362285.5:n.*125G>C
ENST00000479577.2:c.*125G>C ENSP00000493995.1:n.*125G>C
ENST00000642198.1:c.*1125G>C ENSP00000494827.1:n.*1125G>C
ENST00000642772.1:c.*94+6490G>C ENSP00000495041.1:n.*94+6490G>C
ENST00000643042.1:c.1174G>C ENSP00000496674.1:n.1174G>C
ENST00000643619.1:c.*1136G>C ENSP00000494378.1:n.*1136G>C
ENST00000643752.1:c.*879G>C ENSP00000495000.1:n.*879G>C
ENST00000644088.1:c.*874G>C ENSP00000494066.1:n.*874G>C
ENST00000644591.1:c.*879G>C ENSP00000496664.1:n.*879G>C
ENST00000644895.1:c.*99+6490G>C ENSP00000493872.1:n.*99+6490G>C
ENST00000645345.1:c.*1125G>C ENSP00000495859.1:n.*1125G>C
ENST00000647524.1:c.*1136G>C ENSP00000495077.1:n.*1136G>C
ENST00000373189.5:c.*125G>C ENSP00000362285.5:n.*125G>C
NM_001174098.1:c.*782G>C NP_001167569.1:n.*782G>C
NM_018344.5:c.*125G>C NP_060814.4:n.*125G>C
NR_033413.1:n.1527G>C
NR_033414.1:n.1300G>C
XM_006717910.2:c.*125G>C XP_006717973.1:n.*125G>C
NM_001363518.1:c.*125G>C NP_001350447.1:n.*125G>C
XM_017016377.2:c.*125G>C XP_016871866.1:n.*125G>C
XM_017016378.2:c.*125G>C XP_016871867.1:n.*125G>C
NM_018344.6:c.*125G>C MANE Select NP_060814.4:n.*125G>C
NM_001174098.2:c.*782G>C NP_001167569.1:n.*782G>C
NM_001363518.2:c.*125G>C NP_001350447.1:n.*125G>C
NR_033413.2:n.1521G>C
NR_033414.2:n.1294G>C