Canonical Allele Identifier: CA5543058

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 662093
• ClinVar RCV Id: RCV000819659
• dbSNP Id: rs370631755
• ExAC: 10:73121735 G / A
• gnomAD v2: 10-73121735-G-A
• gnomAD v3: 10-71361978-G-A
• gnomAD v4: 10-71361978-G-A
• MyVariant Identifiers: chr10:g.73121735G>A (hg19) ; chr10:g.71361978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361978G>A , CM000672.2:g.71361978G>A	GRCh38
NC_000010.10:g.73121735G>A , CM000672.1:g.73121735G>A	GRCh37
NC_000010.9:g.72791741G>A	NCBI36
NG_017066.1:g.47726G>A
NG_017066.2:g.47720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2274G>A
ENST00000373189.6:c.798G>A MANE Select	ENSP00000362285.5:p.Ala266=
ENST00000479577.2:c.564G>A	ENSP00000493995.1:p.Ala188=
ENST00000642198.1:c.*370G>A	ENSP00000494827.1:n.*370G>A
ENST00000642772.1:c.*94+5735G>A	ENSP00000495041.1:n.*94+5735G>A
ENST00000643042.1:c.419G>A	ENSP00000496674.1:n.419G>A
ENST00000643619.1:c.*381G>A	ENSP00000494378.1:n.*381G>A
ENST00000643752.1:c.*124G>A	ENSP00000495000.1:n.*124G>A
ENST00000644088.1:c.*119G>A	ENSP00000494066.1:n.*119G>A
ENST00000644591.1:c.*124G>A	ENSP00000496664.1:n.*124G>A
ENST00000644895.1:c.*99+5735G>A	ENSP00000493872.1:n.*99+5735G>A
ENST00000645345.1:c.*370G>A	ENSP00000495859.1:n.*370G>A
ENST00000647524.1:c.*381G>A	ENSP00000495077.1:n.*381G>A
ENST00000373189.5:c.798G>A	ENSP00000362285.5:p.Ala266=
ENST00000469204.1:n.295G>A
NM_001174098.1:c.*27G>A	NP_001167569.1:n.*27G>A
NM_018344.5:c.798G>A	NP_060814.4:p.Ala266=
NR_033413.1:n.772G>A
NR_033414.1:n.545G>A
XM_006717910.2:c.564G>A	XP_006717973.1:p.Ala188=
NM_001363518.1:c.564G>A	NP_001350447.1:p.Ala188=
XM_017016377.2:c.360G>A	XP_016871866.1:p.Ala120=
XM_017016378.2:c.180G>A	XP_016871867.1:p.Ala60=
NM_018344.6:c.798G>A MANE Select	NP_060814.4:p.Ala266=
NM_001174098.2:c.*27G>A	NP_001167569.1:n.*27G>A
NM_001363518.2:c.564G>A	NP_001350447.1:p.Ala188=
NR_033413.2:n.766G>A
NR_033414.2:n.539G>A