Canonical Allele Identifier: CA5543000

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71356094C>T , CM000672.2:g.71356094C>T	GRCh38
NC_000010.10:g.73115851C>T , CM000672.1:g.73115851C>T	GRCh37
NC_000010.9:g.72785857C>T	NCBI36
NG_017066.1:g.41842C>T
NG_017066.2:g.41836C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.624C>T MANE Select	NP_060814.4:p.Gly208=
ENST00000373189.6:c.624C>T MANE Select	ENSP00000362285.5:p.Gly208=
NM_001174098.1:c.624C>T	NP_001167569.1:p.Gly208=
NM_001174098.2:c.624C>T	NP_001167569.1:p.Gly208=
NM_001363518.1:c.390C>T	NP_001350447.1:p.Gly130=
NM_001363518.2:c.390C>T	NP_001350447.1:p.Gly130=
NM_018344.5:c.624C>T	NP_060814.4:p.Gly208=
NR_033413.1:n.598C>T
NR_033413.2:n.592C>T
NR_033414.1:n.371C>T
NR_033414.2:n.365C>T
ENST00000373189.5:c.624C>T	ENSP00000362285.5:p.Gly208=
ENST00000469204.1:n.115C>T
ENST00000479577.2:c.390C>T	ENSP00000493995.1:p.Gly130=
ENST00000642198.1:c.*196C>T	ENSP00000494827.1:n.*196C>T
ENST00000642772.1:c.314C>T	ENSP00000495041.1:p.Ala105Val
ENST00000643042.1:c.245C>T	ENSP00000496674.1:p.Ala82Val
ENST00000643619.1:c.*207C>T	ENSP00000494378.1:n.*207C>T
ENST00000643752.1:c.397C>T	ENSP00000495000.1:p.Arg133Trp
ENST00000644088.1:c.314C>T	ENSP00000494066.1:p.Ala105Val
ENST00000644591.1:c.541C>T	ENSP00000496664.1:p.Arg181Trp
ENST00000644895.1:c.541C>T	ENSP00000493872.1:p.Arg181Trp
ENST00000645345.1:c.*196C>T	ENSP00000495859.1:n.*196C>T
ENST00000647524.1:c.*207C>T	ENSP00000495077.1:n.*207C>T
ENST00000697843.1:n.2100C>T
XM_006717910.2:c.390C>T	XP_006717973.1:p.Gly130=
XM_017016377.2:c.186C>T	XP_016871866.1:p.Gly62=
XM_017016378.2:c.6C>T	XP_016871867.1:p.Gly2=