Canonical Allele Identifier: CA377115249
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362154C>A , CM000672.2:g.71362154C>A GRCh38
NC_000010.10:g.73121911C>A , CM000672.1:g.73121911C>A GRCh37
NC_000010.9:g.72791917C>A NCBI36
NG_017066.1:g.47902C>A
NG_017066.2:g.47896C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2450C>A
ENST00000373189.6:c.974C>A MANE Select ENSP00000362285.5:p.Ala325Asp
ENST00000479577.2:c.740C>A ENSP00000493995.1:p.Ala247Asp
ENST00000642198.1:c.*546C>A ENSP00000494827.1:n.*546C>A
ENST00000642772.1:c.*94+5911C>A ENSP00000495041.1:n.*94+5911C>A
ENST00000643042.1:c.595C>A ENSP00000496674.1:n.595C>A
ENST00000643619.1:c.*557C>A ENSP00000494378.1:n.*557C>A
ENST00000643752.1:c.*300C>A ENSP00000495000.1:n.*300C>A
ENST00000644088.1:c.*295C>A ENSP00000494066.1:n.*295C>A
ENST00000644591.1:c.*300C>A ENSP00000496664.1:n.*300C>A
ENST00000644895.1:c.*99+5911C>A ENSP00000493872.1:n.*99+5911C>A
ENST00000645345.1:c.*546C>A ENSP00000495859.1:n.*546C>A
ENST00000647524.1:c.*557C>A ENSP00000495077.1:n.*557C>A
ENST00000373189.5:c.974C>A ENSP00000362285.5:p.Ala325Asp
ENST00000469204.1:n.471C>A
NM_001174098.1:c.*203C>A NP_001167569.1:n.*203C>A
NM_018344.5:c.974C>A NP_060814.4:p.Ala325Asp
NR_033413.1:n.948C>A
NR_033414.1:n.721C>A
XM_006717910.2:c.740C>A XP_006717973.1:p.Ala247Asp
NM_001363518.1:c.740C>A NP_001350447.1:p.Ala247Asp
XM_017016377.2:c.536C>A XP_016871866.1:p.Ala179Asp
XM_017016378.2:c.356C>A XP_016871867.1:p.Ala119Asp
NM_018344.6:c.974C>A MANE Select NP_060814.4:p.Ala325Asp
NM_001174098.2:c.*203C>A NP_001167569.1:n.*203C>A
NM_001363518.2:c.740C>A NP_001350447.1:p.Ala247Asp
NR_033413.2:n.942C>A
NR_033414.2:n.715C>A