Canonical Allele Identifier: CA377116732
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362297G>C , CM000672.2:g.71362297G>C GRCh38
NC_000010.10:g.73122054G>C , CM000672.1:g.73122054G>C GRCh37
NC_000010.9:g.72792060G>C NCBI36
NG_017066.1:g.48045G>C
NG_017066.2:g.48039G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2593G>C
ENST00000373189.6:c.1117G>C MANE Select ENSP00000362285.5:p.Gly373Arg
ENST00000479577.2:c.883G>C ENSP00000493995.1:p.Gly295Arg
ENST00000642198.1:c.*689G>C ENSP00000494827.1:n.*689G>C
ENST00000642772.1:c.*94+6054G>C ENSP00000495041.1:n.*94+6054G>C
ENST00000643042.1:c.738G>C ENSP00000496674.1:n.738G>C
ENST00000643619.1:c.*700G>C ENSP00000494378.1:n.*700G>C
ENST00000643752.1:c.*443G>C ENSP00000495000.1:n.*443G>C
ENST00000644088.1:c.*438G>C ENSP00000494066.1:n.*438G>C
ENST00000644591.1:c.*443G>C ENSP00000496664.1:n.*443G>C
ENST00000644895.1:c.*99+6054G>C ENSP00000493872.1:n.*99+6054G>C
ENST00000645345.1:c.*689G>C ENSP00000495859.1:n.*689G>C
ENST00000647524.1:c.*700G>C ENSP00000495077.1:n.*700G>C
ENST00000373189.5:c.1117G>C ENSP00000362285.5:p.Gly373Arg
ENST00000469204.1:n.614G>C
NM_001174098.1:c.*346G>C NP_001167569.1:n.*346G>C
NM_018344.5:c.1117G>C NP_060814.4:p.Gly373Arg
NR_033413.1:n.1091G>C
NR_033414.1:n.864G>C
XM_006717910.2:c.883G>C XP_006717973.1:p.Gly295Arg
NM_001363518.1:c.883G>C NP_001350447.1:p.Gly295Arg
XM_017016377.2:c.679G>C XP_016871866.1:p.Gly227Arg
XM_017016378.2:c.499G>C XP_016871867.1:p.Gly167Arg
NM_018344.6:c.1117G>C MANE Select NP_060814.4:p.Gly373Arg
NM_001174098.2:c.*346G>C NP_001167569.1:n.*346G>C
NM_001363518.2:c.883G>C NP_001350447.1:p.Gly295Arg
NR_033413.2:n.1085G>C
NR_033414.2:n.858G>C