Canonical Allele Identifier: CA377117429
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362519G>T , CM000672.2:g.71362519G>T GRCh38
NC_000010.10:g.73122276G>T , CM000672.1:g.73122276G>T GRCh37
NC_000010.9:g.72792282G>T NCBI36
NG_017066.1:g.48267G>T
NG_017066.2:g.48261G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697843.1:n.2815G>T
ENST00000373189.6:c.1339G>T MANE Select ENSP00000362285.5:p.Glu447Ter
ENST00000479577.2:c.1105G>T ENSP00000493995.1:p.Glu369Ter
ENST00000642198.1:c.*911G>T ENSP00000494827.1:n.*911G>T
ENST00000642772.1:c.*94+6276G>T ENSP00000495041.1:n.*94+6276G>T
ENST00000643042.1:c.960G>T ENSP00000496674.1:n.960G>T
ENST00000643619.1:c.*922G>T ENSP00000494378.1:n.*922G>T
ENST00000643752.1:c.*665G>T ENSP00000495000.1:n.*665G>T
ENST00000644088.1:c.*660G>T ENSP00000494066.1:n.*660G>T
ENST00000644591.1:c.*665G>T ENSP00000496664.1:n.*665G>T
ENST00000644895.1:c.*99+6276G>T ENSP00000493872.1:n.*99+6276G>T
ENST00000645345.1:c.*911G>T ENSP00000495859.1:n.*911G>T
ENST00000647524.1:c.*922G>T ENSP00000495077.1:n.*922G>T
ENST00000373189.5:c.1339G>T ENSP00000362285.5:p.Glu447Ter
ENST00000469204.1:n.836G>T
NM_001174098.1:c.*568G>T NP_001167569.1:n.*568G>T
NM_018344.5:c.1339G>T NP_060814.4:p.Glu447Ter
NR_033413.1:n.1313G>T
NR_033414.1:n.1086G>T
XM_006717910.2:c.1105G>T XP_006717973.1:p.Glu369Ter
NM_001363518.1:c.1105G>T NP_001350447.1:p.Glu369Ter
XM_017016377.2:c.901G>T XP_016871866.1:p.Glu301Ter
XM_017016378.2:c.721G>T XP_016871867.1:p.Glu241Ter
NM_018344.6:c.1339G>T MANE Select NP_060814.4:p.Glu447Ter
NM_001174098.2:c.*568G>T NP_001167569.1:n.*568G>T
NM_001363518.2:c.1105G>T NP_001350447.1:p.Glu369Ter
NR_033413.2:n.1307G>T
NR_033414.2:n.1080G>T