Canonical Allele Identifier: CA377113844

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1023478
• ClinVar RCV Id: RCV001323522
• dbSNP Id: rs1847066506
• gnomAD v3: 10-71361979-G-A
• gnomAD v4: 10-71361979-G-A
• MyVariant Identifiers: chr10:g.73121736G>A (hg19) ; chr10:g.71361979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361979G>A , CM000672.2:g.71361979G>A	GRCh38
NC_000010.10:g.73121736G>A , CM000672.1:g.73121736G>A	GRCh37
NC_000010.9:g.72791742G>A	NCBI36
NG_017066.1:g.47727G>A
NG_017066.2:g.47721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2275G>A
ENST00000373189.6:c.799G>A MANE Select	ENSP00000362285.5:p.Ala267Thr
ENST00000479577.2:c.565G>A	ENSP00000493995.1:p.Ala189Thr
ENST00000642198.1:c.*371G>A	ENSP00000494827.1:n.*371G>A
ENST00000642772.1:c.*94+5736G>A	ENSP00000495041.1:n.*94+5736G>A
ENST00000643042.1:c.420G>A	ENSP00000496674.1:n.420G>A
ENST00000643619.1:c.*382G>A	ENSP00000494378.1:n.*382G>A
ENST00000643752.1:c.*125G>A	ENSP00000495000.1:n.*125G>A
ENST00000644088.1:c.*120G>A	ENSP00000494066.1:n.*120G>A
ENST00000644591.1:c.*125G>A	ENSP00000496664.1:n.*125G>A
ENST00000644895.1:c.*99+5736G>A	ENSP00000493872.1:n.*99+5736G>A
ENST00000645345.1:c.*371G>A	ENSP00000495859.1:n.*371G>A
ENST00000647524.1:c.*382G>A	ENSP00000495077.1:n.*382G>A
ENST00000373189.5:c.799G>A	ENSP00000362285.5:p.Ala267Thr
ENST00000469204.1:n.296G>A
NM_001174098.1:c.*28G>A	NP_001167569.1:n.*28G>A
NM_018344.5:c.799G>A	NP_060814.4:p.Ala267Thr
NR_033413.1:n.773G>A
NR_033414.1:n.546G>A
XM_006717910.2:c.565G>A	XP_006717973.1:p.Ala189Thr
NM_001363518.1:c.565G>A	NP_001350447.1:p.Ala189Thr
XM_017016377.2:c.361G>A	XP_016871866.1:p.Ala121Thr
XM_017016378.2:c.181G>A	XP_016871867.1:p.Ala61Thr
NM_018344.6:c.799G>A MANE Select	NP_060814.4:p.Ala267Thr
NM_001174098.2:c.*28G>A	NP_001167569.1:n.*28G>A
NM_001363518.2:c.565G>A	NP_001350447.1:p.Ala189Thr
NR_033413.2:n.767G>A
NR_033414.2:n.540G>A