Canonical Allele Identifier: CA209387766

Gene: SLC29A3

Linked Data

• dbSNP Id: rs533587954
• gnomAD v3: 10-71362036-G-A
• gnomAD v4: 10-71362036-G-A
• COSMIC: COSM4560787
• MyVariant Identifiers: chr10:g.73121793G>A (hg19) ; chr10:g.71362036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362036G>A , CM000672.2:g.71362036G>A	GRCh38
NC_000010.10:g.73121793G>A , CM000672.1:g.73121793G>A	GRCh37
NC_000010.9:g.72791799G>A	NCBI36
NG_017066.1:g.47784G>A
NG_017066.2:g.47778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2332G>A
ENST00000373189.6:c.856G>A MANE Select	ENSP00000362285.5:p.Val286Met
ENST00000479577.2:c.622G>A	ENSP00000493995.1:p.Val208Met
ENST00000642198.1:c.*428G>A	ENSP00000494827.1:n.*428G>A
ENST00000642772.1:c.*94+5793G>A	ENSP00000495041.1:n.*94+5793G>A
ENST00000643042.1:c.477G>A	ENSP00000496674.1:n.477G>A
ENST00000643619.1:c.*439G>A	ENSP00000494378.1:n.*439G>A
ENST00000643752.1:c.*182G>A	ENSP00000495000.1:n.*182G>A
ENST00000644088.1:c.*177G>A	ENSP00000494066.1:n.*177G>A
ENST00000644591.1:c.*182G>A	ENSP00000496664.1:n.*182G>A
ENST00000644895.1:c.*99+5793G>A	ENSP00000493872.1:n.*99+5793G>A
ENST00000645345.1:c.*428G>A	ENSP00000495859.1:n.*428G>A
ENST00000647524.1:c.*439G>A	ENSP00000495077.1:n.*439G>A
ENST00000373189.5:c.856G>A	ENSP00000362285.5:p.Val286Met
ENST00000469204.1:n.353G>A
NM_001174098.1:c.*85G>A	NP_001167569.1:n.*85G>A
NM_018344.5:c.856G>A	NP_060814.4:p.Val286Met
NR_033413.1:n.830G>A
NR_033414.1:n.603G>A
XM_006717910.2:c.622G>A	XP_006717973.1:p.Val208Met
NM_001363518.1:c.622G>A	NP_001350447.1:p.Val208Met
XM_017016377.2:c.418G>A	XP_016871866.1:p.Val140Met
XM_017016378.2:c.238G>A	XP_016871867.1:p.Val80Met
NM_018344.6:c.856G>A MANE Select	NP_060814.4:p.Val286Met
NM_001174098.2:c.*85G>A	NP_001167569.1:n.*85G>A
NM_001363518.2:c.622G>A	NP_001350447.1:p.Val208Met
NR_033413.2:n.824G>A
NR_033414.2:n.597G>A