Canonical Allele Identifier: CA377114420

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2548287
• ClinVar RCV Id: RCV003262979
• MyVariant Identifiers: chr10:g.73121815C>A (hg19) ; chr10:g.71362058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362058C>A , CM000672.2:g.71362058C>A	GRCh38
NC_000010.10:g.73121815C>A , CM000672.1:g.73121815C>A	GRCh37
NC_000010.9:g.72791821C>A	NCBI36
NG_017066.1:g.47806C>A
NG_017066.2:g.47800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2354C>A
ENST00000373189.6:c.878C>A MANE Select	ENSP00000362285.5:p.Ser293Tyr
ENST00000479577.2:c.644C>A	ENSP00000493995.1:p.Ser215Tyr
ENST00000642198.1:c.*450C>A	ENSP00000494827.1:n.*450C>A
ENST00000642772.1:c.*94+5815C>A	ENSP00000495041.1:n.*94+5815C>A
ENST00000643042.1:c.499C>A	ENSP00000496674.1:n.499C>A
ENST00000643619.1:c.*461C>A	ENSP00000494378.1:n.*461C>A
ENST00000643752.1:c.*204C>A	ENSP00000495000.1:n.*204C>A
ENST00000644088.1:c.*199C>A	ENSP00000494066.1:n.*199C>A
ENST00000644591.1:c.*204C>A	ENSP00000496664.1:n.*204C>A
ENST00000644895.1:c.*99+5815C>A	ENSP00000493872.1:n.*99+5815C>A
ENST00000645345.1:c.*450C>A	ENSP00000495859.1:n.*450C>A
ENST00000647524.1:c.*461C>A	ENSP00000495077.1:n.*461C>A
ENST00000373189.5:c.878C>A	ENSP00000362285.5:p.Ser293Tyr
ENST00000469204.1:n.375C>A
NM_001174098.1:c.*107C>A	NP_001167569.1:n.*107C>A
NM_018344.5:c.878C>A	NP_060814.4:p.Ser293Tyr
NR_033413.1:n.852C>A
NR_033414.1:n.625C>A
XM_006717910.2:c.644C>A	XP_006717973.1:p.Ser215Tyr
NM_001363518.1:c.644C>A	NP_001350447.1:p.Ser215Tyr
XM_017016377.2:c.440C>A	XP_016871866.1:p.Ser147Tyr
XM_017016378.2:c.260C>A	XP_016871867.1:p.Ser87Tyr
NM_018344.6:c.878C>A MANE Select	NP_060814.4:p.Ser293Tyr
NM_001174098.2:c.*107C>A	NP_001167569.1:n.*107C>A
NM_001363518.2:c.644C>A	NP_001350447.1:p.Ser215Tyr
NR_033413.2:n.846C>A
NR_033414.2:n.619C>A