Canonical Allele Identifier: CA5542927

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71351579G>A , CM000672.2:g.71351579G>A	GRCh38
NC_000010.10:g.73111336G>A , CM000672.1:g.73111336G>A	GRCh37
NC_000010.9:g.72781342G>A	NCBI36
NG_017066.1:g.37327G>A
NG_017066.2:g.37321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.401G>A MANE Select	NP_060814.4:p.Arg134His
ENST00000373189.6:c.401G>A MANE Select	ENSP00000362285.5:p.Arg134His
NM_001174098.1:c.401G>A	NP_001167569.1:p.Arg134His
NM_001174098.2:c.401G>A	NP_001167569.1:p.Arg134His
NM_001363518.1:c.167G>A	NP_001350447.1:p.Arg56His
NM_001363518.2:c.167G>A	NP_001350447.1:p.Arg56His
NM_018344.5:c.401G>A	NP_060814.4:p.Arg134His
NR_033413.1:n.375G>A
NR_033413.2:n.369G>A
NR_033414.1:n.358-4502G>A
NR_033414.2:n.352-4502G>A
ENST00000373189.5:c.401G>A	ENSP00000362285.5:p.Arg134His
ENST00000479577.2:c.167G>A	ENSP00000493995.1:p.Arg56His
ENST00000642198.1:c.84G>A	ENSP00000494827.1:p.Pro28=
ENST00000642772.1:c.301-4502G>A	ENSP00000495041.1:n.301-4502G>A
ENST00000643042.1:c.232-4502G>A	ENSP00000496674.1:n.232-4502G>A
ENST00000643619.1:c.167G>A	ENSP00000494378.1:p.Arg56His
ENST00000643752.1:c.384-4502G>A	ENSP00000495000.1:n.384-4502G>A
ENST00000644088.1:c.301-4502G>A	ENSP00000494066.1:n.301-4502G>A
ENST00000644591.1:c.318G>A	ENSP00000496664.1:p.Pro106=
ENST00000644895.1:c.318G>A	ENSP00000493872.1:p.Pro106=
ENST00000645345.1:c.318G>A	ENSP00000495859.1:p.Pro106=
ENST00000647524.1:c.401G>A	ENSP00000495077.1:p.Arg134His
ENST00000697843.1:n.847G>A
XM_006717910.2:c.167G>A	XP_006717973.1:p.Arg56His
XM_017016377.2:c.-38G>A	XP_016871866.1:n.-38G>A
XM_017016378.2:c.-8-4502G>A	XP_016871867.1:n.-8-4502G>A