Canonical Allele Identifier: CA5543054

Gene: SLC29A3

Linked Data

• dbSNP Id: rs531851937
• ExAC: 10:73121722 G / A
• gnomAD v2: 10-73121722-G-A
• gnomAD v3: 10-71361965-G-A
• gnomAD v4: 10-71361965-G-A
• MyVariant Identifiers: chr10:g.73121722G>A (hg19) ; chr10:g.71361965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361965G>A , CM000672.2:g.71361965G>A	GRCh38
NC_000010.10:g.73121722G>A , CM000672.1:g.73121722G>A	GRCh37
NC_000010.9:g.72791728G>A	NCBI36
NG_017066.1:g.47713G>A
NG_017066.2:g.47707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2261G>A
ENST00000373189.6:c.785G>A MANE Select	ENSP00000362285.5:p.Arg262Lys
ENST00000479577.2:c.551G>A	ENSP00000493995.1:p.Arg184Lys
ENST00000642198.1:c.*357G>A	ENSP00000494827.1:n.*357G>A
ENST00000642772.1:c.*94+5722G>A	ENSP00000495041.1:n.*94+5722G>A
ENST00000643042.1:c.406G>A	ENSP00000496674.1:n.406G>A
ENST00000643619.1:c.*368G>A	ENSP00000494378.1:n.*368G>A
ENST00000643752.1:c.*111G>A	ENSP00000495000.1:n.*111G>A
ENST00000644088.1:c.*106G>A	ENSP00000494066.1:n.*106G>A
ENST00000644591.1:c.*111G>A	ENSP00000496664.1:n.*111G>A
ENST00000644895.1:c.*99+5722G>A	ENSP00000493872.1:n.*99+5722G>A
ENST00000645345.1:c.*357G>A	ENSP00000495859.1:n.*357G>A
ENST00000647524.1:c.*368G>A	ENSP00000495077.1:n.*368G>A
ENST00000373189.5:c.785G>A	ENSP00000362285.5:p.Arg262Lys
ENST00000469204.1:n.282G>A
NM_001174098.1:c.*14G>A	NP_001167569.1:n.*14G>A
NM_018344.5:c.785G>A	NP_060814.4:p.Arg262Lys
NR_033413.1:n.759G>A
NR_033414.1:n.532G>A
XM_006717910.2:c.551G>A	XP_006717973.1:p.Arg184Lys
NM_001363518.1:c.551G>A	NP_001350447.1:p.Arg184Lys
XM_017016377.2:c.347G>A	XP_016871866.1:p.Arg116Lys
XM_017016378.2:c.167G>A	XP_016871867.1:p.Arg56Lys
NM_018344.6:c.785G>A MANE Select	NP_060814.4:p.Arg262Lys
NM_001174098.2:c.*14G>A	NP_001167569.1:n.*14G>A
NM_001363518.2:c.551G>A	NP_001350447.1:p.Arg184Lys
NR_033413.2:n.753G>A
NR_033414.2:n.526G>A