Canonical Allele Identifier: CA114352

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 565
• ClinVar RCV Id: RCV000000595 ; RCV000414664
• dbSNP Id: rs121912584
• ExAC: 10:73122246 G / A
• gnomAD v2: 10-73122246-G-A
• gnomAD v3: 10-71362489-G-A
• gnomAD v4: 10-71362489-G-A
• COSMIC: COSM4727016
• MyVariant Identifiers: chr10:g.73122246G>A (hg19) ; chr10:g.71362489G>A (hg38)
• PubMed: PMID:16118898 ; PMID:16155931 ; PMID:17461801 ; PMID:18940313 ; PMID:19336477 ; PMID:20140240 ; PMID:20595384

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362489G>A , CM000672.2:g.71362489G>A	GRCh38
NC_000010.10:g.73122246G>A , CM000672.1:g.73122246G>A	GRCh37
NC_000010.9:g.72792252G>A	NCBI36
NG_017066.1:g.48237G>A
NG_017066.2:g.48231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2785G>A
ENST00000373189.6:c.1309G>A MANE Select	ENSP00000362285.5:p.Gly437Arg
ENST00000479577.2:c.1075G>A	ENSP00000493995.1:p.Gly359Arg
ENST00000642198.1:c.*881G>A	ENSP00000494827.1:n.*881G>A
ENST00000642772.1:c.*94+6246G>A	ENSP00000495041.1:n.*94+6246G>A
ENST00000643042.1:c.930G>A	ENSP00000496674.1:n.930G>A
ENST00000643619.1:c.*892G>A	ENSP00000494378.1:n.*892G>A
ENST00000643752.1:c.*635G>A	ENSP00000495000.1:n.*635G>A
ENST00000644088.1:c.*630G>A	ENSP00000494066.1:n.*630G>A
ENST00000644591.1:c.*635G>A	ENSP00000496664.1:n.*635G>A
ENST00000644895.1:c.*99+6246G>A	ENSP00000493872.1:n.*99+6246G>A
ENST00000645345.1:c.*881G>A	ENSP00000495859.1:n.*881G>A
ENST00000647524.1:c.*892G>A	ENSP00000495077.1:n.*892G>A
ENST00000373189.5:c.1309G>A	ENSP00000362285.5:p.Gly437Arg
ENST00000469204.1:n.806G>A
NM_001174098.1:c.*538G>A	NP_001167569.1:n.*538G>A
NM_018344.5:c.1309G>A	NP_060814.4:p.Gly437Arg
NR_033413.1:n.1283G>A
NR_033414.1:n.1056G>A
XM_006717910.2:c.1075G>A	XP_006717973.1:p.Gly359Arg
NM_001363518.1:c.1075G>A	NP_001350447.1:p.Gly359Arg
XM_017016377.2:c.871G>A	XP_016871866.1:p.Gly291Arg
XM_017016378.2:c.691G>A	XP_016871867.1:p.Gly231Arg
NM_018344.6:c.1309G>A MANE Select	NP_060814.4:p.Gly437Arg
NM_001174098.2:c.*538G>A	NP_001167569.1:n.*538G>A
NM_001363518.2:c.1075G>A	NP_001350447.1:p.Gly359Arg
NR_033413.2:n.1277G>A
NR_033414.2:n.1050G>A