Canonical Allele Identifier: CA1918678365

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362141C= , CM000672.2:g.71362141C=	GRCh38
NC_000010.10:g.73121898C= , CM000672.1:g.73121898C=	GRCh37
NC_000010.9:g.72791904C=	NCBI36
NG_017066.1:g.47889C=
NG_017066.2:g.47883C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2437C=
ENST00000373189.6:c.961C= MANE Select	ENSP00000362285.5:p.Leu321=
ENST00000479577.2:c.727C=	ENSP00000493995.1:p.Leu243=
ENST00000642198.1:c.*533C=	ENSP00000494827.1:n.*533C=
ENST00000642772.1:c.*94+5898C=	ENSP00000495041.1:n.*94+5898C=
ENST00000643042.1:c.582C=	ENSP00000496674.1:n.582C=
ENST00000643619.1:c.*544C=	ENSP00000494378.1:n.*544C=
ENST00000643752.1:c.*287C=	ENSP00000495000.1:n.*287C=
ENST00000644088.1:c.*282C=	ENSP00000494066.1:n.*282C=
ENST00000644591.1:c.*287C=	ENSP00000496664.1:n.*287C=
ENST00000644895.1:c.*99+5898C=	ENSP00000493872.1:n.*99+5898C=
ENST00000645345.1:c.*533C=	ENSP00000495859.1:n.*533C=
ENST00000647524.1:c.*544C=	ENSP00000495077.1:n.*544C=
ENST00000373189.5:c.961C=	ENSP00000362285.5:p.Leu321=
ENST00000469204.1:n.458C=
NM_001174098.1:c.*190C=	NP_001167569.1:n.*190C=
NM_018344.5:c.961C=	NP_060814.4:p.Leu321=
NR_033413.1:n.935C=
NR_033414.1:n.708C=
XM_006717910.2:c.727C=	XP_006717973.1:p.Leu243=
NM_001363518.1:c.727C=	NP_001350447.1:p.Leu243=
XM_017016377.2:c.523C=	XP_016871866.1:p.Leu175=
XM_017016378.2:c.343C=	XP_016871867.1:p.Leu115=
NM_018344.6:c.961C= MANE Select	NP_060814.4:p.Leu321=
NM_001174098.2:c.*190C=	NP_001167569.1:n.*190C=
NM_001363518.2:c.727C=	NP_001350447.1:p.Leu243=
NR_033413.2:n.929C=
NR_033414.2:n.702C=