Canonical Allele Identifier: CA5543102

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1906186
• ClinVar RCV Id: RCV002588977
• dbSNP Id: rs546180014
• ExAC: 10:73121925 A / G
• gnomAD v2: 10-73121925-A-G
• gnomAD v3: 10-71362168-A-G
• gnomAD v4: 10-71362168-A-G
• MyVariant Identifiers: chr10:g.73121925A>G (hg19) ; chr10:g.71362168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362168A>G , CM000672.2:g.71362168A>G	GRCh38
NC_000010.10:g.73121925A>G , CM000672.1:g.73121925A>G	GRCh37
NC_000010.9:g.72791931A>G	NCBI36
NG_017066.1:g.47916A>G
NG_017066.2:g.47910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2464A>G
ENST00000373189.6:c.988A>G MANE Select	ENSP00000362285.5:p.Ile330Val
ENST00000479577.2:c.754A>G	ENSP00000493995.1:p.Ile252Val
ENST00000642198.1:c.*560A>G	ENSP00000494827.1:n.*560A>G
ENST00000642772.1:c.*94+5925A>G	ENSP00000495041.1:n.*94+5925A>G
ENST00000643042.1:c.609A>G	ENSP00000496674.1:n.609A>G
ENST00000643619.1:c.*571A>G	ENSP00000494378.1:n.*571A>G
ENST00000643752.1:c.*314A>G	ENSP00000495000.1:n.*314A>G
ENST00000644088.1:c.*309A>G	ENSP00000494066.1:n.*309A>G
ENST00000644591.1:c.*314A>G	ENSP00000496664.1:n.*314A>G
ENST00000644895.1:c.*99+5925A>G	ENSP00000493872.1:n.*99+5925A>G
ENST00000645345.1:c.*560A>G	ENSP00000495859.1:n.*560A>G
ENST00000647524.1:c.*571A>G	ENSP00000495077.1:n.*571A>G
ENST00000373189.5:c.988A>G	ENSP00000362285.5:p.Ile330Val
ENST00000469204.1:n.485A>G
NM_001174098.1:c.*217A>G	NP_001167569.1:n.*217A>G
NM_018344.5:c.988A>G	NP_060814.4:p.Ile330Val
NR_033413.1:n.962A>G
NR_033414.1:n.735A>G
XM_006717910.2:c.754A>G	XP_006717973.1:p.Ile252Val
NM_001363518.1:c.754A>G	NP_001350447.1:p.Ile252Val
XM_017016377.2:c.550A>G	XP_016871866.1:p.Ile184Val
XM_017016378.2:c.370A>G	XP_016871867.1:p.Ile124Val
NM_018344.6:c.988A>G MANE Select	NP_060814.4:p.Ile330Val
NM_001174098.2:c.*217A>G	NP_001167569.1:n.*217A>G
NM_001363518.2:c.754A>G	NP_001350447.1:p.Ile252Val
NR_033413.2:n.956A>G
NR_033414.2:n.729A>G