Canonical Allele Identifier: CA1918678444

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362313C= , CM000672.2:g.71362313C=	GRCh38
NC_000010.10:g.73122070C= , CM000672.1:g.73122070C=	GRCh37
NC_000010.9:g.72792076C=	NCBI36
NG_017066.1:g.48061C=
NG_017066.2:g.48055C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2609C=
ENST00000373189.6:c.1133C= MANE Select	ENSP00000362285.5:p.Ala378=
ENST00000479577.2:c.899C=	ENSP00000493995.1:p.Ala300=
ENST00000642198.1:c.*705C=	ENSP00000494827.1:n.*705C=
ENST00000642772.1:c.*94+6070C=	ENSP00000495041.1:n.*94+6070C=
ENST00000643042.1:c.754C=	ENSP00000496674.1:n.754C=
ENST00000643619.1:c.*716C=	ENSP00000494378.1:n.*716C=
ENST00000643752.1:c.*459C=	ENSP00000495000.1:n.*459C=
ENST00000644088.1:c.*454C=	ENSP00000494066.1:n.*454C=
ENST00000644591.1:c.*459C=	ENSP00000496664.1:n.*459C=
ENST00000644895.1:c.*99+6070C=	ENSP00000493872.1:n.*99+6070C=
ENST00000645345.1:c.*705C=	ENSP00000495859.1:n.*705C=
ENST00000647524.1:c.*716C=	ENSP00000495077.1:n.*716C=
ENST00000373189.5:c.1133C=	ENSP00000362285.5:p.Ala378=
ENST00000469204.1:n.630C=
NM_001174098.1:c.*362C=	NP_001167569.1:n.*362C=
NM_018344.5:c.1133C=	NP_060814.4:p.Ala378=
NR_033413.1:n.1107C=
NR_033414.1:n.880C=
XM_006717910.2:c.899C=	XP_006717973.1:p.Ala300=
NM_001363518.1:c.899C=	NP_001350447.1:p.Ala300=
XM_017016377.2:c.695C=	XP_016871866.1:p.Ala232=
XM_017016378.2:c.515C=	XP_016871867.1:p.Ala172=
NM_018344.6:c.1133C= MANE Select	NP_060814.4:p.Ala378=
NM_001174098.2:c.*362C=	NP_001167569.1:n.*362C=
NM_001363518.2:c.899C=	NP_001350447.1:p.Ala300=
NR_033413.2:n.1101C=
NR_033414.2:n.874C=