Canonical Allele Identifier: CA1918678455

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362328T= , CM000672.2:g.71362328T=	GRCh38
NC_000010.10:g.73122085T= , CM000672.1:g.73122085T=	GRCh37
NC_000010.9:g.72792091T=	NCBI36
NG_017066.1:g.48076T=
NG_017066.2:g.48070T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2624T=
ENST00000373189.6:c.1148T= MANE Select	ENSP00000362285.5:p.Val383=
ENST00000479577.2:c.914T=	ENSP00000493995.1:p.Val305=
ENST00000642198.1:c.*720T=	ENSP00000494827.1:n.*720T=
ENST00000642772.1:c.*94+6085T=	ENSP00000495041.1:n.*94+6085T=
ENST00000643042.1:c.769T=	ENSP00000496674.1:n.769T=
ENST00000643619.1:c.*731T=	ENSP00000494378.1:n.*731T=
ENST00000643752.1:c.*474T=	ENSP00000495000.1:n.*474T=
ENST00000644088.1:c.*469T=	ENSP00000494066.1:n.*469T=
ENST00000644591.1:c.*474T=	ENSP00000496664.1:n.*474T=
ENST00000644895.1:c.*99+6085T=	ENSP00000493872.1:n.*99+6085T=
ENST00000645345.1:c.*720T=	ENSP00000495859.1:n.*720T=
ENST00000647524.1:c.*731T=	ENSP00000495077.1:n.*731T=
ENST00000373189.5:c.1148T=	ENSP00000362285.5:p.Val383=
ENST00000469204.1:n.645T=
NM_001174098.1:c.*377T=	NP_001167569.1:n.*377T=
NM_018344.5:c.1148T=	NP_060814.4:p.Val383=
NR_033413.1:n.1122T=
NR_033414.1:n.895T=
XM_006717910.2:c.914T=	XP_006717973.1:p.Val305=
NM_001363518.1:c.914T=	NP_001350447.1:p.Val305=
XM_017016377.2:c.710T=	XP_016871866.1:p.Val237=
XM_017016378.2:c.530T=	XP_016871867.1:p.Val177=
NM_018344.6:c.1148T= MANE Select	NP_060814.4:p.Val383=
NM_001174098.2:c.*377T=	NP_001167569.1:n.*377T=
NM_001363518.2:c.914T=	NP_001350447.1:p.Val305=
NR_033413.2:n.1116T=
NR_033414.2:n.889T=