Canonical Allele Identifier: CA1918678513

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362445T= , CM000672.2:g.71362445T=	GRCh38
NC_000010.10:g.73122202T= , CM000672.1:g.73122202T=	GRCh37
NC_000010.9:g.72792208T=	NCBI36
NG_017066.1:g.48193T=
NG_017066.2:g.48187T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2741T=
ENST00000373189.6:c.1265T= MANE Select	ENSP00000362285.5:p.Leu422=
ENST00000479577.2:c.1031T=	ENSP00000493995.1:p.Leu344=
ENST00000642198.1:c.*837T=	ENSP00000494827.1:n.*837T=
ENST00000642772.1:c.*94+6202T=	ENSP00000495041.1:n.*94+6202T=
ENST00000643042.1:c.886T=	ENSP00000496674.1:n.886T=
ENST00000643619.1:c.*848T=	ENSP00000494378.1:n.*848T=
ENST00000643752.1:c.*591T=	ENSP00000495000.1:n.*591T=
ENST00000644088.1:c.*586T=	ENSP00000494066.1:n.*586T=
ENST00000644591.1:c.*591T=	ENSP00000496664.1:n.*591T=
ENST00000644895.1:c.*99+6202T=	ENSP00000493872.1:n.*99+6202T=
ENST00000645345.1:c.*837T=	ENSP00000495859.1:n.*837T=
ENST00000647524.1:c.*848T=	ENSP00000495077.1:n.*848T=
ENST00000373189.5:c.1265T=	ENSP00000362285.5:p.Leu422=
ENST00000469204.1:n.762T=
NM_001174098.1:c.*494T=	NP_001167569.1:n.*494T=
NM_018344.5:c.1265T=	NP_060814.4:p.Leu422=
NR_033413.1:n.1239T=
NR_033414.1:n.1012T=
XM_006717910.2:c.1031T=	XP_006717973.1:p.Leu344=
NM_001363518.1:c.1031T=	NP_001350447.1:p.Leu344=
XM_017016377.2:c.827T=	XP_016871866.1:p.Leu276=
XM_017016378.2:c.647T=	XP_016871867.1:p.Leu216=
NM_018344.6:c.1265T= MANE Select	NP_060814.4:p.Leu422=
NM_001174098.2:c.*494T=	NP_001167569.1:n.*494T=
NM_001363518.2:c.1031T=	NP_001350447.1:p.Leu344=
NR_033413.2:n.1233T=
NR_033414.2:n.1006T=