Canonical Allele Identifier: CA2573145498

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1354691
• ClinVar RCV Id: RCV001866549
• dbSNP Id: rs2131851477

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362143del , CM000672.2:g.71362143del	GRCh38
NC_000010.10:g.73121900del , CM000672.1:g.73121900del	GRCh37
NC_000010.9:g.72791906del	NCBI36
NG_017066.1:g.47891del
NG_017066.2:g.47885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2439del
ENST00000373189.6:c.963del MANE Select	ENSP00000362285.5:p.Ile322SerfsTer?
ENST00000479577.2:c.729del	ENSP00000493995.1:p.Ile244SerfsTer?
ENST00000642198.1:c.*535del	ENSP00000494827.1:n.*535del
ENST00000642772.1:c.*94+5900del	ENSP00000495041.1:n.*94+5900del
ENST00000643042.1:c.584del	ENSP00000496674.1:n.584del
ENST00000643619.1:c.*546del	ENSP00000494378.1:n.*546del
ENST00000643752.1:c.*289del	ENSP00000495000.1:n.*289del
ENST00000644088.1:c.*284del	ENSP00000494066.1:n.*284del
ENST00000644591.1:c.*289del	ENSP00000496664.1:n.*289del
ENST00000644895.1:c.*99+5900del	ENSP00000493872.1:n.*99+5900del
ENST00000645345.1:c.*535del	ENSP00000495859.1:n.*535del
ENST00000647524.1:c.*546del	ENSP00000495077.1:n.*546del
ENST00000373189.5:c.963del	ENSP00000362285.5:p.Ile322SerfsTer?
ENST00000469204.1:n.460del
NM_001174098.1:c.*192del	NP_001167569.1:n.*192del
NM_018344.5:c.963del	NP_060814.4:p.Ile322SerfsTer?
NR_033413.1:n.937del
NR_033414.1:n.710del
XM_006717910.2:c.729del	XP_006717973.1:p.Ile244SerfsTer?
NM_001363518.1:c.729del	NP_001350447.1:p.Ile244SerfsTer?
XM_017016377.2:c.525del	XP_016871866.1:p.Ile176SerfsTer?
XM_017016378.2:c.345del	XP_016871867.1:p.Ile116SerfsTer?
NM_018344.6:c.963del MANE Select	NP_060814.4:p.Ile322SerfsTer?
NM_001174098.2:c.*192del	NP_001167569.1:n.*192del
NM_001363518.2:c.729del	NP_001350447.1:p.Ile244SerfsTer?
NR_033413.2:n.931del
NR_033414.2:n.704del