Canonical Allele Identifier: CA377114578

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1379589
• ClinVar RCV Id: RCV001914889
• dbSNP Id: rs1307741029
• gnomAD v2: 10-73121839-T-A
• gnomAD v3: 10-71362082-T-A
• gnomAD v4: 10-71362082-T-A
• MyVariant Identifiers: chr10:g.73121839T>A (hg19) ; chr10:g.71362082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362082T>A , CM000672.2:g.71362082T>A	GRCh38
NC_000010.10:g.73121839T>A , CM000672.1:g.73121839T>A	GRCh37
NC_000010.9:g.72791845T>A	NCBI36
NG_017066.1:g.47830T>A
NG_017066.2:g.47824T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2378T>A
ENST00000373189.6:c.902T>A MANE Select	ENSP00000362285.5:p.Ile301Asn
ENST00000479577.2:c.668T>A	ENSP00000493995.1:p.Ile223Asn
ENST00000642198.1:c.*474T>A	ENSP00000494827.1:n.*474T>A
ENST00000642772.1:c.*94+5839T>A	ENSP00000495041.1:n.*94+5839T>A
ENST00000643042.1:c.523T>A	ENSP00000496674.1:n.523T>A
ENST00000643619.1:c.*485T>A	ENSP00000494378.1:n.*485T>A
ENST00000643752.1:c.*228T>A	ENSP00000495000.1:n.*228T>A
ENST00000644088.1:c.*223T>A	ENSP00000494066.1:n.*223T>A
ENST00000644591.1:c.*228T>A	ENSP00000496664.1:n.*228T>A
ENST00000644895.1:c.*99+5839T>A	ENSP00000493872.1:n.*99+5839T>A
ENST00000645345.1:c.*474T>A	ENSP00000495859.1:n.*474T>A
ENST00000647524.1:c.*485T>A	ENSP00000495077.1:n.*485T>A
ENST00000373189.5:c.902T>A	ENSP00000362285.5:p.Ile301Asn
ENST00000469204.1:n.399T>A
NM_001174098.1:c.*131T>A	NP_001167569.1:n.*131T>A
NM_018344.5:c.902T>A	NP_060814.4:p.Ile301Asn
NR_033413.1:n.876T>A
NR_033414.1:n.649T>A
XM_006717910.2:c.668T>A	XP_006717973.1:p.Ile223Asn
NM_001363518.1:c.668T>A	NP_001350447.1:p.Ile223Asn
XM_017016377.2:c.464T>A	XP_016871866.1:p.Ile155Asn
XM_017016378.2:c.284T>A	XP_016871867.1:p.Ile95Asn
NM_018344.6:c.902T>A MANE Select	NP_060814.4:p.Ile301Asn
NM_001174098.2:c.*131T>A	NP_001167569.1:n.*131T>A
NM_001363518.2:c.668T>A	NP_001350447.1:p.Ile223Asn
NR_033413.2:n.870T>A
NR_033414.2:n.643T>A