Canonical Allele Identifier: CA1918678341

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847072087

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362088del , CM000672.2:g.71362088del	GRCh38
NC_000010.10:g.73121845del , CM000672.1:g.73121845del	GRCh37
NC_000010.9:g.72791851del	NCBI36
NG_017066.1:g.47836del
NG_017066.2:g.47830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2384del
ENST00000373189.6:c.908del MANE Select	ENSP00000362285.5:p.Lys303ArgfsTer?
ENST00000479577.2:c.674del	ENSP00000493995.1:p.Lys225ArgfsTer?
ENST00000642198.1:c.*480del	ENSP00000494827.1:n.*480del
ENST00000642772.1:c.*94+5845del	ENSP00000495041.1:n.*94+5845del
ENST00000643042.1:c.529del	ENSP00000496674.1:n.529del
ENST00000643619.1:c.*491del	ENSP00000494378.1:n.*491del
ENST00000643752.1:c.*234del	ENSP00000495000.1:n.*234del
ENST00000644088.1:c.*229del	ENSP00000494066.1:n.*229del
ENST00000644591.1:c.*234del	ENSP00000496664.1:n.*234del
ENST00000644895.1:c.*99+5845del	ENSP00000493872.1:n.*99+5845del
ENST00000645345.1:c.*480del	ENSP00000495859.1:n.*480del
ENST00000647524.1:c.*491del	ENSP00000495077.1:n.*491del
ENST00000373189.5:c.908del	ENSP00000362285.5:p.Lys303ArgfsTer?
ENST00000469204.1:n.405del
NM_001174098.1:c.*137del	NP_001167569.1:n.*137del
NM_018344.5:c.908del	NP_060814.4:p.Lys303ArgfsTer?
NR_033413.1:n.882del
NR_033414.1:n.655del
XM_006717910.2:c.674del	XP_006717973.1:p.Lys225ArgfsTer?
NM_001363518.1:c.674del	NP_001350447.1:p.Lys225ArgfsTer?
XM_017016377.2:c.470del	XP_016871866.1:p.Lys157ArgfsTer?
XM_017016378.2:c.290del	XP_016871867.1:p.Lys97ArgfsTer?
NM_018344.6:c.908del MANE Select	NP_060814.4:p.Lys303ArgfsTer?
NM_001174098.2:c.*137del	NP_001167569.1:n.*137del
NM_001363518.2:c.674del	NP_001350447.1:p.Lys225ArgfsTer?
NR_033413.2:n.876del
NR_033414.2:n.649del