Canonical Allele Identifier: CA5543001

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71356095G>A , CM000672.2:g.71356095G>A	GRCh38
NC_000010.10:g.73115852G>A , CM000672.1:g.73115852G>A	GRCh37
NC_000010.9:g.72785858G>A	NCBI36
NG_017066.1:g.41843G>A
NG_017066.2:g.41837G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.625G>A MANE Select	NP_060814.4:p.Gly209Arg
ENST00000373189.6:c.625G>A MANE Select	ENSP00000362285.5:p.Gly209Arg
NM_001174098.1:c.625G>A	NP_001167569.1:p.Gly209Arg
NM_001174098.2:c.625G>A	NP_001167569.1:p.Gly209Arg
NM_001363518.1:c.391G>A	NP_001350447.1:p.Gly131Arg
NM_001363518.2:c.391G>A	NP_001350447.1:p.Gly131Arg
NM_018344.5:c.625G>A	NP_060814.4:p.Gly209Arg
NR_033413.1:n.599G>A
NR_033413.2:n.593G>A
NR_033414.1:n.372G>A
NR_033414.2:n.366G>A
ENST00000373189.5:c.625G>A	ENSP00000362285.5:p.Gly209Arg
ENST00000469204.1:n.116G>A
ENST00000479577.2:c.391G>A	ENSP00000493995.1:p.Gly131Arg
ENST00000642198.1:c.*197G>A	ENSP00000494827.1:n.*197G>A
ENST00000642772.1:c.315G>A	ENSP00000495041.1:p.Ala105=
ENST00000643042.1:c.246G>A	ENSP00000496674.1:p.Ala82=
ENST00000643619.1:c.*208G>A	ENSP00000494378.1:n.*208G>A
ENST00000643752.1:c.398G>A	ENSP00000495000.1:p.Arg133Gln
ENST00000644088.1:c.315G>A	ENSP00000494066.1:p.Ala105=
ENST00000644591.1:c.542G>A	ENSP00000496664.1:p.Arg181Gln
ENST00000644895.1:c.542G>A	ENSP00000493872.1:p.Arg181Gln
ENST00000645345.1:c.*197G>A	ENSP00000495859.1:n.*197G>A
ENST00000647524.1:c.*208G>A	ENSP00000495077.1:n.*208G>A
ENST00000697843.1:n.2101G>A
XM_006717910.2:c.391G>A	XP_006717973.1:p.Gly131Arg
XM_017016377.2:c.187G>A	XP_016871866.1:p.Gly63Arg
XM_017016378.2:c.7G>A	XP_016871867.1:p.Gly3Arg