Canonical Allele Identifier: CA1918678572

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362593G= , CM000672.2:g.71362593G=	GRCh38
NC_000010.10:g.73122350G= , CM000672.1:g.73122350G=	GRCh37
NC_000010.9:g.72792356G=	NCBI36
NG_017066.1:g.48341G=
NG_017066.2:g.48335G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2889G=
ENST00000373189.6:c.1413G= MANE Select	ENSP00000362285.5:p.Leu471=
ENST00000479577.2:c.1179G=	ENSP00000493995.1:p.Leu393=
ENST00000642198.1:c.*985G=	ENSP00000494827.1:n.*985G=
ENST00000642772.1:c.*94+6350G=	ENSP00000495041.1:n.*94+6350G=
ENST00000643042.1:c.1034G=	ENSP00000496674.1:n.1034G=
ENST00000643619.1:c.*996G=	ENSP00000494378.1:n.*996G=
ENST00000643752.1:c.*739G=	ENSP00000495000.1:n.*739G=
ENST00000644088.1:c.*734G=	ENSP00000494066.1:n.*734G=
ENST00000644591.1:c.*739G=	ENSP00000496664.1:n.*739G=
ENST00000644895.1:c.*99+6350G=	ENSP00000493872.1:n.*99+6350G=
ENST00000645345.1:c.*985G=	ENSP00000495859.1:n.*985G=
ENST00000647524.1:c.*996G=	ENSP00000495077.1:n.*996G=
ENST00000373189.5:c.1413G=	ENSP00000362285.5:p.Leu471=
NM_001174098.1:c.*642G=	NP_001167569.1:n.*642G=
NM_018344.5:c.1413G=	NP_060814.4:p.Leu471=
NR_033413.1:n.1387G=
NR_033414.1:n.1160G=
XM_006717910.2:c.1179G=	XP_006717973.1:p.Leu393=
NM_001363518.1:c.1179G=	NP_001350447.1:p.Leu393=
XM_017016377.2:c.975G=	XP_016871866.1:p.Leu325=
XM_017016378.2:c.795G=	XP_016871867.1:p.Leu265=
NM_018344.6:c.1413G= MANE Select	NP_060814.4:p.Leu471=
NM_001174098.2:c.*642G=	NP_001167569.1:n.*642G=
NM_001363518.2:c.1179G=	NP_001350447.1:p.Leu393=
NR_033413.2:n.1381G=
NR_033414.2:n.1154G=