Canonical Allele Identifier: CA5543056

Gene: SLC29A3

Linked Data

• dbSNP Id: rs755718984
• ExAC: 10:73121733 G / A
• gnomAD v2: 10-73121733-G-A
• gnomAD v4: 10-71361976-G-A
• COSMIC: COSM4727012
• MyVariant Identifiers: chr10:g.73121733G>A (hg19) ; chr10:g.71361976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361976G>A , CM000672.2:g.71361976G>A	GRCh38
NC_000010.10:g.73121733G>A , CM000672.1:g.73121733G>A	GRCh37
NC_000010.9:g.72791739G>A	NCBI36
NG_017066.1:g.47724G>A
NG_017066.2:g.47718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2272G>A
ENST00000373189.6:c.796G>A MANE Select	ENSP00000362285.5:p.Ala266Thr
ENST00000479577.2:c.562G>A	ENSP00000493995.1:p.Ala188Thr
ENST00000642198.1:c.*368G>A	ENSP00000494827.1:n.*368G>A
ENST00000642772.1:c.*94+5733G>A	ENSP00000495041.1:n.*94+5733G>A
ENST00000643042.1:c.417G>A	ENSP00000496674.1:n.417G>A
ENST00000643619.1:c.*379G>A	ENSP00000494378.1:n.*379G>A
ENST00000643752.1:c.*122G>A	ENSP00000495000.1:n.*122G>A
ENST00000644088.1:c.*117G>A	ENSP00000494066.1:n.*117G>A
ENST00000644591.1:c.*122G>A	ENSP00000496664.1:n.*122G>A
ENST00000644895.1:c.*99+5733G>A	ENSP00000493872.1:n.*99+5733G>A
ENST00000645345.1:c.*368G>A	ENSP00000495859.1:n.*368G>A
ENST00000647524.1:c.*379G>A	ENSP00000495077.1:n.*379G>A
ENST00000373189.5:c.796G>A	ENSP00000362285.5:p.Ala266Thr
ENST00000469204.1:n.293G>A
NM_001174098.1:c.*25G>A	NP_001167569.1:n.*25G>A
NM_018344.5:c.796G>A	NP_060814.4:p.Ala266Thr
NR_033413.1:n.770G>A
NR_033414.1:n.543G>A
XM_006717910.2:c.562G>A	XP_006717973.1:p.Ala188Thr
NM_001363518.1:c.562G>A	NP_001350447.1:p.Ala188Thr
XM_017016377.2:c.358G>A	XP_016871866.1:p.Ala120Thr
XM_017016378.2:c.178G>A	XP_016871867.1:p.Ala60Thr
NM_018344.6:c.796G>A MANE Select	NP_060814.4:p.Ala266Thr
NM_001174098.2:c.*25G>A	NP_001167569.1:n.*25G>A
NM_001363518.2:c.562G>A	NP_001350447.1:p.Ala188Thr
NR_033413.2:n.764G>A
NR_033414.2:n.537G>A