Canonical Allele Identifier: CA1918678524

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362474C= , CM000672.2:g.71362474C=	GRCh38
NC_000010.10:g.73122231C= , CM000672.1:g.73122231C=	GRCh37
NC_000010.9:g.72792237C=	NCBI36
NG_017066.1:g.48222C=
NG_017066.2:g.48216C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2770C=
ENST00000373189.6:c.1294C= MANE Select	ENSP00000362285.5:p.Leu432=
ENST00000479577.2:c.1060C=	ENSP00000493995.1:p.Leu354=
ENST00000642198.1:c.*866C=	ENSP00000494827.1:n.*866C=
ENST00000642772.1:c.*94+6231C=	ENSP00000495041.1:n.*94+6231C=
ENST00000643042.1:c.915C=	ENSP00000496674.1:n.915C=
ENST00000643619.1:c.*877C=	ENSP00000494378.1:n.*877C=
ENST00000643752.1:c.*620C=	ENSP00000495000.1:n.*620C=
ENST00000644088.1:c.*615C=	ENSP00000494066.1:n.*615C=
ENST00000644591.1:c.*620C=	ENSP00000496664.1:n.*620C=
ENST00000644895.1:c.*99+6231C=	ENSP00000493872.1:n.*99+6231C=
ENST00000645345.1:c.*866C=	ENSP00000495859.1:n.*866C=
ENST00000647524.1:c.*877C=	ENSP00000495077.1:n.*877C=
ENST00000373189.5:c.1294C=	ENSP00000362285.5:p.Leu432=
ENST00000469204.1:n.791C=
NM_001174098.1:c.*523C=	NP_001167569.1:n.*523C=
NM_018344.5:c.1294C=	NP_060814.4:p.Leu432=
NR_033413.1:n.1268C=
NR_033414.1:n.1041C=
XM_006717910.2:c.1060C=	XP_006717973.1:p.Leu354=
NM_001363518.1:c.1060C=	NP_001350447.1:p.Leu354=
XM_017016377.2:c.856C=	XP_016871866.1:p.Leu286=
XM_017016378.2:c.676C=	XP_016871867.1:p.Leu226=
NM_018344.6:c.1294C= MANE Select	NP_060814.4:p.Leu432=
NM_001174098.2:c.*523C=	NP_001167569.1:n.*523C=
NM_001363518.2:c.1060C=	NP_001350447.1:p.Leu354=
NR_033413.2:n.1262C=
NR_033414.2:n.1035C=