Canonical Allele Identifier: CA1918678581

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362608G= , CM000672.2:g.71362608G=	GRCh38
NC_000010.10:g.73122365G= , CM000672.1:g.73122365G=	GRCh37
NC_000010.9:g.72792371G=	NCBI36
NG_017066.1:g.48356G=
NG_017066.2:g.48350G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2904G=
ENST00000373189.6:c.1428G= MANE Select	ENSP00000362285.5:p.Ter476=
ENST00000479577.2:c.1194G=	ENSP00000493995.1:p.Ter398=
ENST00000642198.1:c.*1000G=	ENSP00000494827.1:n.*1000G=
ENST00000642772.1:c.*94+6365G=	ENSP00000495041.1:n.*94+6365G=
ENST00000643042.1:c.1049G=	ENSP00000496674.1:n.1049G=
ENST00000643619.1:c.*1011G=	ENSP00000494378.1:n.*1011G=
ENST00000643752.1:c.*754G=	ENSP00000495000.1:n.*754G=
ENST00000644088.1:c.*749G=	ENSP00000494066.1:n.*749G=
ENST00000644591.1:c.*754G=	ENSP00000496664.1:n.*754G=
ENST00000644895.1:c.*99+6365G=	ENSP00000493872.1:n.*99+6365G=
ENST00000645345.1:c.*1000G=	ENSP00000495859.1:n.*1000G=
ENST00000647524.1:c.*1011G=	ENSP00000495077.1:n.*1011G=
ENST00000373189.5:c.1428G=	ENSP00000362285.5:p.Ter476=
NM_001174098.1:c.*657G=	NP_001167569.1:n.*657G=
NM_018344.5:c.1428G=	NP_060814.4:p.Ter476=
NR_033413.1:n.1402G=
NR_033414.1:n.1175G=
XM_006717910.2:c.1194G=	XP_006717973.1:p.Ter398=
NM_001363518.1:c.1194G=	NP_001350447.1:p.Ter398=
XM_017016377.2:c.990G=	XP_016871866.1:p.Ter330=
XM_017016378.2:c.810G=	XP_016871867.1:p.Ter270=
NM_018344.6:c.1428G= MANE Select	NP_060814.4:p.Ter476=
NM_001174098.2:c.*657G=	NP_001167569.1:n.*657G=
NM_001363518.2:c.1194G=	NP_001350447.1:p.Ter398=
NR_033413.2:n.1396G=
NR_033414.2:n.1169G=