Canonical Allele Identifier: CA129561

Gene: SLC29A3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362268G>A , CM000672.2:g.71362268G>A	GRCh38
NC_000010.10:g.73122025G>A , CM000672.1:g.73122025G>A	GRCh37
NC_000010.9:g.72792031G>A	NCBI36
NG_017066.1:g.48016G>A
NG_017066.2:g.48010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2564G>A
ENST00000373189.6:c.1088G>A MANE Select	ENSP00000362285.5:p.Arg363Gln
ENST00000479577.2:c.854G>A	ENSP00000493995.1:p.Arg285Gln
ENST00000642198.1:c.*660G>A	ENSP00000494827.1:n.*660G>A
ENST00000642772.1:c.*94+6025G>A	ENSP00000495041.1:n.*94+6025G>A
ENST00000643042.1:c.709G>A	ENSP00000496674.1:n.709G>A
ENST00000643619.1:c.*671G>A	ENSP00000494378.1:n.*671G>A
ENST00000643752.1:c.*414G>A	ENSP00000495000.1:n.*414G>A
ENST00000644088.1:c.*409G>A	ENSP00000494066.1:n.*409G>A
ENST00000644591.1:c.*414G>A	ENSP00000496664.1:n.*414G>A
ENST00000644895.1:c.*99+6025G>A	ENSP00000493872.1:n.*99+6025G>A
ENST00000645345.1:c.*660G>A	ENSP00000495859.1:n.*660G>A
ENST00000647524.1:c.*671G>A	ENSP00000495077.1:n.*671G>A
ENST00000373189.5:c.1088G>A	ENSP00000362285.5:p.Arg363Gln
ENST00000469204.1:n.585G>A
NM_001174098.1:c.*317G>A	NP_001167569.1:n.*317G>A
NM_018344.5:c.1088G>A	NP_060814.4:p.Arg363Gln
NR_033413.1:n.1062G>A
NR_033414.1:n.835G>A
XM_006717910.2:c.854G>A	XP_006717973.1:p.Arg285Gln
NM_001363518.1:c.854G>A	NP_001350447.1:p.Arg285Gln
XM_017016377.2:c.650G>A	XP_016871866.1:p.Arg217Gln
XM_017016378.2:c.470G>A	XP_016871867.1:p.Arg157Gln
NM_018344.6:c.1088G>A MANE Select	NP_060814.4:p.Arg363Gln
NM_001174098.2:c.*317G>A	NP_001167569.1:n.*317G>A
NM_001363518.2:c.854G>A	NP_001350447.1:p.Arg285Gln
NR_033413.2:n.1056G>A
NR_033414.2:n.829G>A