Canonical Allele Identifier: CA1918678456

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362332C= , CM000672.2:g.71362332C=	GRCh38
NC_000010.10:g.73122089C= , CM000672.1:g.73122089C=	GRCh37
NC_000010.9:g.72792095C=	NCBI36
NG_017066.1:g.48080C=
NG_017066.2:g.48074C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2628C=
ENST00000373189.6:c.1152C= MANE Select	ENSP00000362285.5:p.Leu384=
ENST00000479577.2:c.918C=	ENSP00000493995.1:p.Leu306=
ENST00000642198.1:c.*724C=	ENSP00000494827.1:n.*724C=
ENST00000642772.1:c.*94+6089C=	ENSP00000495041.1:n.*94+6089C=
ENST00000643042.1:c.773C=	ENSP00000496674.1:n.773C=
ENST00000643619.1:c.*735C=	ENSP00000494378.1:n.*735C=
ENST00000643752.1:c.*478C=	ENSP00000495000.1:n.*478C=
ENST00000644088.1:c.*473C=	ENSP00000494066.1:n.*473C=
ENST00000644591.1:c.*478C=	ENSP00000496664.1:n.*478C=
ENST00000644895.1:c.*99+6089C=	ENSP00000493872.1:n.*99+6089C=
ENST00000645345.1:c.*724C=	ENSP00000495859.1:n.*724C=
ENST00000647524.1:c.*735C=	ENSP00000495077.1:n.*735C=
ENST00000373189.5:c.1152C=	ENSP00000362285.5:p.Leu384=
ENST00000469204.1:n.649C=
NM_001174098.1:c.*381C=	NP_001167569.1:n.*381C=
NM_018344.5:c.1152C=	NP_060814.4:p.Leu384=
NR_033413.1:n.1126C=
NR_033414.1:n.899C=
XM_006717910.2:c.918C=	XP_006717973.1:p.Leu306=
NM_001363518.1:c.918C=	NP_001350447.1:p.Leu306=
XM_017016377.2:c.714C=	XP_016871866.1:p.Leu238=
XM_017016378.2:c.534C=	XP_016871867.1:p.Leu178=
NM_018344.6:c.1152C= MANE Select	NP_060814.4:p.Leu384=
NM_001174098.2:c.*381C=	NP_001167569.1:n.*381C=
NM_001363518.2:c.918C=	NP_001350447.1:p.Leu306=
NR_033413.2:n.1120C=
NR_033414.2:n.893C=