Canonical Allele Identifier: CA2959031986

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71356180_71356181dup , CM000672.2:g.71356180_71356181dup	GRCh38
NC_000010.10:g.73115937_73115938dup , CM000672.1:g.73115937_73115938dup	GRCh37
NC_000010.9:g.72785943_72785944dup	NCBI36
NG_017066.1:g.41928_41929dup
NG_017066.2:g.41922_41923dup

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.710_711dup MANE Select	NP_060814.4:p.Thr238ProfsTer25
ENST00000373189.6:c.710_711dup MANE Select	ENSP00000362285.5:p.Thr238ProfsTer25
NM_001174098.1:c.710_711dup	NP_001167569.1:p.Thr238ProfsTer27
NM_001174098.2:c.710_711dup	NP_001167569.1:p.Thr238ProfsTer27
NM_001363518.1:c.476_477dup	NP_001350447.1:p.Thr160ProfsTer25
NM_001363518.2:c.476_477dup	NP_001350447.1:p.Thr160ProfsTer25
NM_018344.5:c.710_711dup	NP_060814.4:p.Thr238ProfsTer25
NR_033413.1:n.684_685dup
NR_033413.2:n.678_679dup
NR_033414.1:n.457_458dup
NR_033414.2:n.451_452dup
ENST00000373189.5:c.710_711dup	ENSP00000362285.5:p.Thr238ProfsTer25
ENST00000469204.1:n.201_202dup
ENST00000479577.2:c.476_477dup	ENSP00000493995.1:p.Thr160ProfsTer25
ENST00000642198.1:c.*282_*283dup	ENSP00000494827.1:n.*282_*283dup
ENST00000642772.1:c.*31_*32dup	ENSP00000495041.1:n.*31_*32dup
ENST00000643042.1:c.331_332dup	ENSP00000496674.1:n.331_332dup
ENST00000643619.1:c.*293_*294dup	ENSP00000494378.1:n.*293_*294dup
ENST00000643752.1:c.*36_*37dup	ENSP00000495000.1:n.*36_*37dup
ENST00000644088.1:c.*31_*32dup	ENSP00000494066.1:n.*31_*32dup
ENST00000644591.1:c.*36_*37dup	ENSP00000496664.1:n.*36_*37dup
ENST00000644895.1:c.*36_*37dup	ENSP00000493872.1:n.*36_*37dup
ENST00000645345.1:c.*282_*283dup	ENSP00000495859.1:n.*282_*283dup
ENST00000647524.1:c.*293_*294dup	ENSP00000495077.1:n.*293_*294dup
ENST00000697843.1:n.2186_2187dup
XM_006717910.2:c.476_477dup	XP_006717973.1:p.Thr160ProfsTer25
XM_017016377.2:c.272_273dup	XP_016871866.1:p.Thr92ProfsTer25
XM_017016378.2:c.92_93dup	XP_016871867.1:p.Thr32ProfsTer25