Canonical Allele Identifier: CA1918678293

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361984T= , CM000672.2:g.71361984T=	GRCh38
NC_000010.10:g.73121741T= , CM000672.1:g.73121741T=	GRCh37
NC_000010.9:g.72791747T=	NCBI36
NG_017066.1:g.47732T=
NG_017066.2:g.47726T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2280T=
ENST00000373189.6:c.804T= MANE Select	ENSP00000362285.5:p.His268=
ENST00000479577.2:c.570T=	ENSP00000493995.1:p.His190=
ENST00000642198.1:c.*376T=	ENSP00000494827.1:n.*376T=
ENST00000642772.1:c.*94+5741T=	ENSP00000495041.1:n.*94+5741T=
ENST00000643042.1:c.425T=	ENSP00000496674.1:n.425T=
ENST00000643619.1:c.*387T=	ENSP00000494378.1:n.*387T=
ENST00000643752.1:c.*130T=	ENSP00000495000.1:n.*130T=
ENST00000644088.1:c.*125T=	ENSP00000494066.1:n.*125T=
ENST00000644591.1:c.*130T=	ENSP00000496664.1:n.*130T=
ENST00000644895.1:c.*99+5741T=	ENSP00000493872.1:n.*99+5741T=
ENST00000645345.1:c.*376T=	ENSP00000495859.1:n.*376T=
ENST00000647524.1:c.*387T=	ENSP00000495077.1:n.*387T=
ENST00000373189.5:c.804T=	ENSP00000362285.5:p.His268=
ENST00000469204.1:n.301T=
NM_001174098.1:c.*33T=	NP_001167569.1:n.*33T=
NM_018344.5:c.804T=	NP_060814.4:p.His268=
NR_033413.1:n.778T=
NR_033414.1:n.551T=
XM_006717910.2:c.570T=	XP_006717973.1:p.His190=
NM_001363518.1:c.570T=	NP_001350447.1:p.His190=
XM_017016377.2:c.366T=	XP_016871866.1:p.His122=
XM_017016378.2:c.186T=	XP_016871867.1:p.His62=
NM_018344.6:c.804T= MANE Select	NP_060814.4:p.His268=
NM_001174098.2:c.*33T=	NP_001167569.1:n.*33T=
NM_001363518.2:c.570T=	NP_001350447.1:p.His190=
NR_033413.2:n.772T=
NR_033414.2:n.545T=