Canonical Allele Identifier: CA377109338

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71351578C>T , CM000672.2:g.71351578C>T	GRCh38
NC_000010.10:g.73111335C>T , CM000672.1:g.73111335C>T	GRCh37
NC_000010.9:g.72781341C>T	NCBI36
NG_017066.1:g.37326C>T
NG_017066.2:g.37320C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.400C>T MANE Select	NP_060814.4:p.Arg134Cys
ENST00000373189.6:c.400C>T MANE Select	ENSP00000362285.5:p.Arg134Cys
NM_001174098.1:c.400C>T	NP_001167569.1:p.Arg134Cys
NM_001174098.2:c.400C>T	NP_001167569.1:p.Arg134Cys
NM_001363518.1:c.166C>T	NP_001350447.1:p.Arg56Cys
NM_001363518.2:c.166C>T	NP_001350447.1:p.Arg56Cys
NM_018344.5:c.400C>T	NP_060814.4:p.Arg134Cys
NR_033413.1:n.374C>T
NR_033413.2:n.368C>T
NR_033414.1:n.358-4503C>T
NR_033414.2:n.352-4503C>T
ENST00000373189.5:c.400C>T	ENSP00000362285.5:p.Arg134Cys
ENST00000479577.2:c.166C>T	ENSP00000493995.1:p.Arg56Cys
ENST00000642198.1:c.83C>T	ENSP00000494827.1:p.Pro28Leu
ENST00000642772.1:c.301-4503C>T	ENSP00000495041.1:n.301-4503C>T
ENST00000643042.1:c.232-4503C>T	ENSP00000496674.1:n.232-4503C>T
ENST00000643619.1:c.166C>T	ENSP00000494378.1:p.Arg56Cys
ENST00000643752.1:c.384-4503C>T	ENSP00000495000.1:n.384-4503C>T
ENST00000644088.1:c.301-4503C>T	ENSP00000494066.1:n.301-4503C>T
ENST00000644591.1:c.317C>T	ENSP00000496664.1:p.Pro106Leu
ENST00000644895.1:c.317C>T	ENSP00000493872.1:p.Pro106Leu
ENST00000645345.1:c.317C>T	ENSP00000495859.1:p.Pro106Leu
ENST00000647524.1:c.400C>T	ENSP00000495077.1:p.Arg134Cys
ENST00000697843.1:n.846C>T
XM_006717910.2:c.166C>T	XP_006717973.1:p.Arg56Cys
XM_017016377.2:c.-39C>T	XP_016871866.1:n.-39C>T
XM_017016378.2:c.-8-4503C>T	XP_016871867.1:n.-8-4503C>T