Canonical Allele Identifier: CA1918678370

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847075223

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362152del , CM000672.2:g.71362152del	GRCh38
NC_000010.10:g.73121909del , CM000672.1:g.73121909del	GRCh37
NC_000010.9:g.72791915del	NCBI36
NG_017066.1:g.47900del
NG_017066.2:g.47894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2448del
ENST00000373189.6:c.972del MANE Select	ENSP00000362285.5:p.Ala325ProfsTer?
ENST00000479577.2:c.738del	ENSP00000493995.1:p.Ala247ProfsTer?
ENST00000642198.1:c.*544del	ENSP00000494827.1:n.*544del
ENST00000642772.1:c.*94+5909del	ENSP00000495041.1:n.*94+5909del
ENST00000643042.1:c.593del	ENSP00000496674.1:n.593del
ENST00000643619.1:c.*555del	ENSP00000494378.1:n.*555del
ENST00000643752.1:c.*298del	ENSP00000495000.1:n.*298del
ENST00000644088.1:c.*293del	ENSP00000494066.1:n.*293del
ENST00000644591.1:c.*298del	ENSP00000496664.1:n.*298del
ENST00000644895.1:c.*99+5909del	ENSP00000493872.1:n.*99+5909del
ENST00000645345.1:c.*544del	ENSP00000495859.1:n.*544del
ENST00000647524.1:c.*555del	ENSP00000495077.1:n.*555del
ENST00000373189.5:c.972del	ENSP00000362285.5:p.Ala325ProfsTer?
ENST00000469204.1:n.469del
NM_001174098.1:c.*201del	NP_001167569.1:n.*201del
NM_018344.5:c.972del	NP_060814.4:p.Ala325ProfsTer?
NR_033413.1:n.946del
NR_033414.1:n.719del
XM_006717910.2:c.738del	XP_006717973.1:p.Ala247ProfsTer?
NM_001363518.1:c.738del	NP_001350447.1:p.Ala247ProfsTer?
XM_017016377.2:c.534del	XP_016871866.1:p.Ala179ProfsTer?
XM_017016378.2:c.354del	XP_016871867.1:p.Ala119ProfsTer?
NM_018344.6:c.972del MANE Select	NP_060814.4:p.Ala325ProfsTer?
NM_001174098.2:c.*201del	NP_001167569.1:n.*201del
NM_001363518.2:c.738del	NP_001350447.1:p.Ala247ProfsTer?
NR_033413.2:n.940del
NR_033414.2:n.713del