Canonical Allele Identifier: CA377114518

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847071213
• gnomAD v3: 10-71362072-C-A
• gnomAD v4: 10-71362072-C-A
• MyVariant Identifiers: chr10:g.73121829C>A (hg19) ; chr10:g.71362072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362072C>A , CM000672.2:g.71362072C>A	GRCh38
NC_000010.10:g.73121829C>A , CM000672.1:g.73121829C>A	GRCh37
NC_000010.9:g.72791835C>A	NCBI36
NG_017066.1:g.47820C>A
NG_017066.2:g.47814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2368C>A
ENST00000373189.6:c.892C>A MANE Select	ENSP00000362285.5:p.Leu298Ile
ENST00000479577.2:c.658C>A	ENSP00000493995.1:p.Leu220Ile
ENST00000642198.1:c.*464C>A	ENSP00000494827.1:n.*464C>A
ENST00000642772.1:c.*94+5829C>A	ENSP00000495041.1:n.*94+5829C>A
ENST00000643042.1:c.513C>A	ENSP00000496674.1:n.513C>A
ENST00000643619.1:c.*475C>A	ENSP00000494378.1:n.*475C>A
ENST00000643752.1:c.*218C>A	ENSP00000495000.1:n.*218C>A
ENST00000644088.1:c.*213C>A	ENSP00000494066.1:n.*213C>A
ENST00000644591.1:c.*218C>A	ENSP00000496664.1:n.*218C>A
ENST00000644895.1:c.*99+5829C>A	ENSP00000493872.1:n.*99+5829C>A
ENST00000645345.1:c.*464C>A	ENSP00000495859.1:n.*464C>A
ENST00000647524.1:c.*475C>A	ENSP00000495077.1:n.*475C>A
ENST00000373189.5:c.892C>A	ENSP00000362285.5:p.Leu298Ile
ENST00000469204.1:n.389C>A
NM_001174098.1:c.*121C>A	NP_001167569.1:n.*121C>A
NM_018344.5:c.892C>A	NP_060814.4:p.Leu298Ile
NR_033413.1:n.866C>A
NR_033414.1:n.639C>A
XM_006717910.2:c.658C>A	XP_006717973.1:p.Leu220Ile
NM_001363518.1:c.658C>A	NP_001350447.1:p.Leu220Ile
XM_017016377.2:c.454C>A	XP_016871866.1:p.Leu152Ile
XM_017016378.2:c.274C>A	XP_016871867.1:p.Leu92Ile
NM_018344.6:c.892C>A MANE Select	NP_060814.4:p.Leu298Ile
NM_001174098.2:c.*121C>A	NP_001167569.1:n.*121C>A
NM_001363518.2:c.658C>A	NP_001350447.1:p.Leu220Ile
NR_033413.2:n.860C>A
NR_033414.2:n.633C>A