Canonical Allele Identifier: CA351488

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 566
• ClinVar RCV Id: RCV000000596 ; RCV001090811
• dbSNP Id: rs869025176
• gnomAD v4: 10-71362220-TC-T
• MyVariant Identifiers: chr10:g.73121982del (hg19) ; chr10:g.71362225del (hg38)
• PubMed: PMID:18940313 ; PMID:20595384 ; PMID:21178579

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362225del , CM000672.2:g.71362225del	GRCh38
NC_000010.10:g.73121982del , CM000672.1:g.73121982del	GRCh37
NC_000010.9:g.72791988del	NCBI36
NG_017066.1:g.47973del
NG_017066.2:g.47967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2521del
ENST00000373189.6:c.1045del MANE Select	ENSP00000362285.5:p.Leu349SerfsTer?
ENST00000479577.2:c.811del	ENSP00000493995.1:p.Leu271SerfsTer?
ENST00000642198.1:c.*617del	ENSP00000494827.1:n.*617del
ENST00000642772.1:c.*94+5982del	ENSP00000495041.1:n.*94+5982del
ENST00000643042.1:c.666del	ENSP00000496674.1:n.666del
ENST00000643619.1:c.*628del	ENSP00000494378.1:n.*628del
ENST00000643752.1:c.*371del	ENSP00000495000.1:n.*371del
ENST00000644088.1:c.*366del	ENSP00000494066.1:n.*366del
ENST00000644591.1:c.*371del	ENSP00000496664.1:n.*371del
ENST00000644895.1:c.*99+5982del	ENSP00000493872.1:n.*99+5982del
ENST00000645345.1:c.*617del	ENSP00000495859.1:n.*617del
ENST00000647524.1:c.*628del	ENSP00000495077.1:n.*628del
ENST00000373189.5:c.1045del	ENSP00000362285.5:p.Leu349SerfsTer?
ENST00000469204.1:n.542del
NM_001174098.1:c.*274del	NP_001167569.1:n.*274del
NM_018344.5:c.1045del	NP_060814.4:p.Leu349SerfsTer?
NR_033413.1:n.1019del
NR_033414.1:n.792del
XM_006717910.2:c.811del	XP_006717973.1:p.Leu271SerfsTer?
NM_001363518.1:c.811del	NP_001350447.1:p.Leu271SerfsTer?
XM_017016377.2:c.607del	XP_016871866.1:p.Leu203SerfsTer?
XM_017016378.2:c.427del	XP_016871867.1:p.Leu143SerfsTer?
NM_018344.6:c.1045del MANE Select	NP_060814.4:p.Leu349SerfsTer?
NM_001174098.2:c.*274del	NP_001167569.1:n.*274del
NM_001363518.2:c.811del	NP_001350447.1:p.Leu271SerfsTer?
NR_033413.2:n.1013del
NR_033414.2:n.786del