Canonical Allele Identifier: CA668077618

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 664261
• ClinVar RCV Id: RCV000822325
• dbSNP Id: rs1415833135
• gnomAD v2: 10-73121919-AC-A
• gnomAD v3: 10-71362162-AC-A
• gnomAD v4: 10-71362162-AC-A
• MyVariant Identifiers: chr10:g.73121920del (hg19) ; chr10:g.71362163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362164del , CM000672.2:g.71362164del	GRCh38
NC_000010.10:g.73121921del , CM000672.1:g.73121921del	GRCh37
NC_000010.9:g.72791927del	NCBI36
NG_017066.1:g.47912del
NG_017066.2:g.47906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2460del
ENST00000373189.6:c.984del MANE Select	ENSP00000362285.5:p.Asn329ThrfsTer?
ENST00000479577.2:c.750del	ENSP00000493995.1:p.Asn251ThrfsTer?
ENST00000642198.1:c.*556del	ENSP00000494827.1:n.*556del
ENST00000642772.1:c.*94+5921del	ENSP00000495041.1:n.*94+5921del
ENST00000643042.1:c.605del	ENSP00000496674.1:n.605del
ENST00000643619.1:c.*567del	ENSP00000494378.1:n.*567del
ENST00000643752.1:c.*310del	ENSP00000495000.1:n.*310del
ENST00000644088.1:c.*305del	ENSP00000494066.1:n.*305del
ENST00000644591.1:c.*310del	ENSP00000496664.1:n.*310del
ENST00000644895.1:c.*99+5921del	ENSP00000493872.1:n.*99+5921del
ENST00000645345.1:c.*556del	ENSP00000495859.1:n.*556del
ENST00000647524.1:c.*567del	ENSP00000495077.1:n.*567del
ENST00000373189.5:c.984del	ENSP00000362285.5:p.Asn329ThrfsTer?
ENST00000469204.1:n.481del
NM_001174098.1:c.*213del	NP_001167569.1:n.*213del
NM_018344.5:c.984del	NP_060814.4:p.Asn329ThrfsTer?
NR_033413.1:n.958del
NR_033414.1:n.731del
XM_006717910.2:c.750del	XP_006717973.1:p.Asn251ThrfsTer?
NM_001363518.1:c.750del	NP_001350447.1:p.Asn251ThrfsTer?
XM_017016377.2:c.546del	XP_016871866.1:p.Asn183ThrfsTer?
XM_017016378.2:c.366del	XP_016871867.1:p.Asn123ThrfsTer?
NM_018344.6:c.984del MANE Select	NP_060814.4:p.Asn329ThrfsTer?
NM_001174098.2:c.*213del	NP_001167569.1:n.*213del
NM_001363518.2:c.750del	NP_001350447.1:p.Asn251ThrfsTer?
NR_033413.2:n.952del
NR_033414.2:n.725del