Canonical Allele Identifier: CA377114952
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362113T>A , CM000672.2:g.71362113T>A GRCh38
NC_000010.10:g.73121870T>A , CM000672.1:g.73121870T>A GRCh37
NC_000010.9:g.72791876T>A NCBI36
NG_017066.1:g.47861T>A
NG_017066.2:g.47855T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2409T>A
ENST00000373189.6:c.933T>A MANE Select ENSP00000362285.5:p.Cys311Ter
ENST00000479577.2:c.699T>A ENSP00000493995.1:p.Cys233Ter
ENST00000642198.1:c.*505T>A ENSP00000494827.1:n.*505T>A
ENST00000642772.1:c.*94+5870T>A ENSP00000495041.1:n.*94+5870T>A
ENST00000643042.1:c.554T>A ENSP00000496674.1:n.554T>A
ENST00000643619.1:c.*516T>A ENSP00000494378.1:n.*516T>A
ENST00000643752.1:c.*259T>A ENSP00000495000.1:n.*259T>A
ENST00000644088.1:c.*254T>A ENSP00000494066.1:n.*254T>A
ENST00000644591.1:c.*259T>A ENSP00000496664.1:n.*259T>A
ENST00000644895.1:c.*99+5870T>A ENSP00000493872.1:n.*99+5870T>A
ENST00000645345.1:c.*505T>A ENSP00000495859.1:n.*505T>A
ENST00000647524.1:c.*516T>A ENSP00000495077.1:n.*516T>A
ENST00000373189.5:c.933T>A ENSP00000362285.5:p.Cys311Ter
ENST00000469204.1:n.430T>A
NM_001174098.1:c.*162T>A NP_001167569.1:n.*162T>A
NM_018344.5:c.933T>A NP_060814.4:p.Cys311Ter
NR_033413.1:n.907T>A
NR_033414.1:n.680T>A
XM_006717910.2:c.699T>A XP_006717973.1:p.Cys233Ter
NM_001363518.1:c.699T>A NP_001350447.1:p.Cys233Ter
XM_017016377.2:c.495T>A XP_016871866.1:p.Cys165Ter
XM_017016378.2:c.315T>A XP_016871867.1:p.Cys105Ter
NM_018344.6:c.933T>A MANE Select NP_060814.4:p.Cys311Ter
NM_001174098.2:c.*162T>A NP_001167569.1:n.*162T>A
NM_001363518.2:c.699T>A NP_001350447.1:p.Cys233Ter
NR_033413.2:n.901T>A
NR_033414.2:n.674T>A