Canonical Allele Identifier: CA5543188

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362527G>A , CM000672.2:g.71362527G>A	GRCh38
NC_000010.10:g.73122284G>A , CM000672.1:g.73122284G>A	GRCh37
NC_000010.9:g.72792290G>A	NCBI36
NG_017066.1:g.48275G>A
NG_017066.2:g.48269G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.1347G>A MANE Select	NP_060814.4:p.Thr449=
ENST00000373189.6:c.1347G>A MANE Select	ENSP00000362285.5:p.Thr449=
NM_001174098.1:c.*576G>A	NP_001167569.1:n.*576G>A
NM_001174098.2:c.*576G>A	NP_001167569.1:n.*576G>A
NM_001363518.1:c.1113G>A	NP_001350447.1:p.Thr371=
NM_001363518.2:c.1113G>A	NP_001350447.1:p.Thr371=
NM_018344.5:c.1347G>A	NP_060814.4:p.Thr449=
NR_033413.1:n.1321G>A
NR_033413.2:n.1315G>A
NR_033414.1:n.1094G>A
NR_033414.2:n.1088G>A
ENST00000373189.5:c.1347G>A	ENSP00000362285.5:p.Thr449=
ENST00000479577.2:c.1113G>A	ENSP00000493995.1:p.Thr371=
ENST00000642198.1:c.*919G>A	ENSP00000494827.1:n.*919G>A
ENST00000642772.1:c.*94+6284G>A	ENSP00000495041.1:n.*94+6284G>A
ENST00000643042.1:c.968G>A	ENSP00000496674.1:n.968G>A
ENST00000643619.1:c.*930G>A	ENSP00000494378.1:n.*930G>A
ENST00000643752.1:c.*673G>A	ENSP00000495000.1:n.*673G>A
ENST00000644088.1:c.*668G>A	ENSP00000494066.1:n.*668G>A
ENST00000644591.1:c.*673G>A	ENSP00000496664.1:n.*673G>A
ENST00000644895.1:c.*99+6284G>A	ENSP00000493872.1:n.*99+6284G>A
ENST00000645345.1:c.*919G>A	ENSP00000495859.1:n.*919G>A
ENST00000647524.1:c.*930G>A	ENSP00000495077.1:n.*930G>A
ENST00000697843.1:n.2823G>A
XM_006717910.2:c.1113G>A	XP_006717973.1:p.Thr371=
XM_017016377.2:c.909G>A	XP_016871866.1:p.Thr303=
XM_017016378.2:c.729G>A	XP_016871867.1:p.Thr243=