Canonical Allele Identifier: CA470280735

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1252666421
• gnomAD v2: 10-73121726-T-A
• MyVariant Identifiers: chr10:g.73121726T>A (hg19) ; chr10:g.71361969T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361969T>A , CM000672.2:g.71361969T>A	GRCh38
NC_000010.10:g.73121726T>A , CM000672.1:g.73121726T>A	GRCh37
NC_000010.9:g.72791732T>A	NCBI36
NG_017066.1:g.47717T>A
NG_017066.2:g.47711T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2265T>A
ENST00000373189.6:c.789T>A MANE Select	ENSP00000362285.5:p.Pro263=
ENST00000479577.2:c.555T>A	ENSP00000493995.1:p.Pro185=
ENST00000642198.1:c.*361T>A	ENSP00000494827.1:n.*361T>A
ENST00000642772.1:c.*94+5726T>A	ENSP00000495041.1:n.*94+5726T>A
ENST00000643042.1:c.410T>A	ENSP00000496674.1:n.410T>A
ENST00000643619.1:c.*372T>A	ENSP00000494378.1:n.*372T>A
ENST00000643752.1:c.*115T>A	ENSP00000495000.1:n.*115T>A
ENST00000644088.1:c.*110T>A	ENSP00000494066.1:n.*110T>A
ENST00000644591.1:c.*115T>A	ENSP00000496664.1:n.*115T>A
ENST00000644895.1:c.*99+5726T>A	ENSP00000493872.1:n.*99+5726T>A
ENST00000645345.1:c.*361T>A	ENSP00000495859.1:n.*361T>A
ENST00000647524.1:c.*372T>A	ENSP00000495077.1:n.*372T>A
ENST00000373189.5:c.789T>A	ENSP00000362285.5:p.Pro263=
ENST00000469204.1:n.286T>A
NM_001174098.1:c.*18T>A	NP_001167569.1:n.*18T>A
NM_018344.5:c.789T>A	NP_060814.4:p.Pro263=
NR_033413.1:n.763T>A
NR_033414.1:n.536T>A
XM_006717910.2:c.555T>A	XP_006717973.1:p.Pro185=
NM_001363518.1:c.555T>A	NP_001350447.1:p.Pro185=
XM_017016377.2:c.351T>A	XP_016871866.1:p.Pro117=
XM_017016378.2:c.171T>A	XP_016871867.1:p.Pro57=
NM_018344.6:c.789T>A MANE Select	NP_060814.4:p.Pro263=
NM_001174098.2:c.*18T>A	NP_001167569.1:n.*18T>A
NM_001363518.2:c.555T>A	NP_001350447.1:p.Pro185=
NR_033413.2:n.757T>A
NR_033414.2:n.530T>A