Canonical Allele Identifier: CA5543019

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71356157C>T , CM000672.2:g.71356157C>T	GRCh38
NC_000010.10:g.73115914C>T , CM000672.1:g.73115914C>T	GRCh37
NC_000010.9:g.72785920C>T	NCBI36
NG_017066.1:g.41905C>T
NG_017066.2:g.41899C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.687C>T MANE Select	NP_060814.4:p.Ser229=
ENST00000373189.6:c.687C>T MANE Select	ENSP00000362285.5:p.Ser229=
NM_001174098.1:c.687C>T	NP_001167569.1:p.Ser229=
NM_001174098.2:c.687C>T	NP_001167569.1:p.Ser229=
NM_001363518.1:c.453C>T	NP_001350447.1:p.Ser151=
NM_001363518.2:c.453C>T	NP_001350447.1:p.Ser151=
NM_018344.5:c.687C>T	NP_060814.4:p.Ser229=
NR_033413.1:n.661C>T
NR_033413.2:n.655C>T
NR_033414.1:n.434C>T
NR_033414.2:n.428C>T
ENST00000373189.5:c.687C>T	ENSP00000362285.5:p.Ser229=
ENST00000469204.1:n.178C>T
ENST00000479577.2:c.453C>T	ENSP00000493995.1:p.Ser151=
ENST00000642198.1:c.*259C>T	ENSP00000494827.1:n.*259C>T
ENST00000642772.1:c.*8C>T	ENSP00000495041.1:n.*8C>T
ENST00000643042.1:c.308C>T	ENSP00000496674.1:n.308C>T
ENST00000643619.1:c.*270C>T	ENSP00000494378.1:n.*270C>T
ENST00000643752.1:c.*13C>T	ENSP00000495000.1:n.*13C>T
ENST00000644088.1:c.*8C>T	ENSP00000494066.1:n.*8C>T
ENST00000644591.1:c.*13C>T	ENSP00000496664.1:n.*13C>T
ENST00000644895.1:c.*13C>T	ENSP00000493872.1:n.*13C>T
ENST00000645345.1:c.*259C>T	ENSP00000495859.1:n.*259C>T
ENST00000647524.1:c.*270C>T	ENSP00000495077.1:n.*270C>T
ENST00000697843.1:n.2163C>T
XM_006717910.2:c.453C>T	XP_006717973.1:p.Ser151=
XM_017016377.2:c.249C>T	XP_016871866.1:p.Ser83=
XM_017016378.2:c.69C>T	XP_016871867.1:p.Ser23=