Canonical Allele Identifier: CA209387715

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1950391
• ClinVar RCV Id: RCV002694768
• dbSNP Id: rs987668742
• gnomAD v2: 10-73121760-G-A
• MyVariant Identifiers: chr10:g.73121760G>A (hg19) ; chr10:g.71362003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362003G>A , CM000672.2:g.71362003G>A	GRCh38
NC_000010.10:g.73121760G>A , CM000672.1:g.73121760G>A	GRCh37
NC_000010.9:g.72791766G>A	NCBI36
NG_017066.1:g.47751G>A
NG_017066.2:g.47745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2299G>A
ENST00000373189.6:c.823G>A MANE Select	ENSP00000362285.5:p.Glu275Lys
ENST00000479577.2:c.589G>A	ENSP00000493995.1:p.Glu197Lys
ENST00000642198.1:c.*395G>A	ENSP00000494827.1:n.*395G>A
ENST00000642772.1:c.*94+5760G>A	ENSP00000495041.1:n.*94+5760G>A
ENST00000643042.1:c.444G>A	ENSP00000496674.1:n.444G>A
ENST00000643619.1:c.*406G>A	ENSP00000494378.1:n.*406G>A
ENST00000643752.1:c.*149G>A	ENSP00000495000.1:n.*149G>A
ENST00000644088.1:c.*144G>A	ENSP00000494066.1:n.*144G>A
ENST00000644591.1:c.*149G>A	ENSP00000496664.1:n.*149G>A
ENST00000644895.1:c.*99+5760G>A	ENSP00000493872.1:n.*99+5760G>A
ENST00000645345.1:c.*395G>A	ENSP00000495859.1:n.*395G>A
ENST00000647524.1:c.*406G>A	ENSP00000495077.1:n.*406G>A
ENST00000373189.5:c.823G>A	ENSP00000362285.5:p.Glu275Lys
ENST00000469204.1:n.320G>A
NM_001174098.1:c.*52G>A	NP_001167569.1:n.*52G>A
NM_018344.5:c.823G>A	NP_060814.4:p.Glu275Lys
NR_033413.1:n.797G>A
NR_033414.1:n.570G>A
XM_006717910.2:c.589G>A	XP_006717973.1:p.Glu197Lys
NM_001363518.1:c.589G>A	NP_001350447.1:p.Glu197Lys
XM_017016377.2:c.385G>A	XP_016871866.1:p.Glu129Lys
XM_017016378.2:c.205G>A	XP_016871867.1:p.Glu69Lys
NM_018344.6:c.823G>A MANE Select	NP_060814.4:p.Glu275Lys
NM_001174098.2:c.*52G>A	NP_001167569.1:n.*52G>A
NM_001363518.2:c.589G>A	NP_001350447.1:p.Glu197Lys
NR_033413.2:n.791G>A
NR_033414.2:n.564G>A