Canonical Allele Identifier: CA5543059

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 651684
• ClinVar RCV Id: RCV000807094 ; RCV001090810
• dbSNP Id: rs757102651
• ExAC: 10:73121737 C / A
• gnomAD v2: 10-73121737-C-A
• gnomAD v3: 10-71361980-C-A
• gnomAD v4: 10-71361980-C-A
• MyVariant Identifiers: chr10:g.73121737C>A (hg19) ; chr10:g.71361980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361980C>A , CM000672.2:g.71361980C>A	GRCh38
NC_000010.10:g.73121737C>A , CM000672.1:g.73121737C>A	GRCh37
NC_000010.9:g.72791743C>A	NCBI36
NG_017066.1:g.47728C>A
NG_017066.2:g.47722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2276C>A
ENST00000373189.6:c.800C>A MANE Select	ENSP00000362285.5:p.Ala267Asp
ENST00000479577.2:c.566C>A	ENSP00000493995.1:p.Ala189Asp
ENST00000642198.1:c.*372C>A	ENSP00000494827.1:n.*372C>A
ENST00000642772.1:c.*94+5737C>A	ENSP00000495041.1:n.*94+5737C>A
ENST00000643042.1:c.421C>A	ENSP00000496674.1:n.421C>A
ENST00000643619.1:c.*383C>A	ENSP00000494378.1:n.*383C>A
ENST00000643752.1:c.*126C>A	ENSP00000495000.1:n.*126C>A
ENST00000644088.1:c.*121C>A	ENSP00000494066.1:n.*121C>A
ENST00000644591.1:c.*126C>A	ENSP00000496664.1:n.*126C>A
ENST00000644895.1:c.*99+5737C>A	ENSP00000493872.1:n.*99+5737C>A
ENST00000645345.1:c.*372C>A	ENSP00000495859.1:n.*372C>A
ENST00000647524.1:c.*383C>A	ENSP00000495077.1:n.*383C>A
ENST00000373189.5:c.800C>A	ENSP00000362285.5:p.Ala267Asp
ENST00000469204.1:n.297C>A
NM_001174098.1:c.*29C>A	NP_001167569.1:n.*29C>A
NM_018344.5:c.800C>A	NP_060814.4:p.Ala267Asp
NR_033413.1:n.774C>A
NR_033414.1:n.547C>A
XM_006717910.2:c.566C>A	XP_006717973.1:p.Ala189Asp
NM_001363518.1:c.566C>A	NP_001350447.1:p.Ala189Asp
XM_017016377.2:c.362C>A	XP_016871866.1:p.Ala121Asp
XM_017016378.2:c.182C>A	XP_016871867.1:p.Ala61Asp
NM_018344.6:c.800C>A MANE Select	NP_060814.4:p.Ala267Asp
NM_001174098.2:c.*29C>A	NP_001167569.1:n.*29C>A
NM_001363518.2:c.566C>A	NP_001350447.1:p.Ala189Asp
NR_033413.2:n.768C>A
NR_033414.2:n.541C>A