Canonical Allele Identifier: CA1918678467

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362359C= , CM000672.2:g.71362359C=	GRCh38
NC_000010.10:g.73122116C= , CM000672.1:g.73122116C=	GRCh37
NC_000010.9:g.72792122C=	NCBI36
NG_017066.1:g.48107C=
NG_017066.2:g.48101C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2655C=
ENST00000373189.6:c.1179C= MANE Select	ENSP00000362285.5:p.Phe393=
ENST00000479577.2:c.945C=	ENSP00000493995.1:p.Phe315=
ENST00000642198.1:c.*751C=	ENSP00000494827.1:n.*751C=
ENST00000642772.1:c.*94+6116C=	ENSP00000495041.1:n.*94+6116C=
ENST00000643042.1:c.800C=	ENSP00000496674.1:n.800C=
ENST00000643619.1:c.*762C=	ENSP00000494378.1:n.*762C=
ENST00000643752.1:c.*505C=	ENSP00000495000.1:n.*505C=
ENST00000644088.1:c.*500C=	ENSP00000494066.1:n.*500C=
ENST00000644591.1:c.*505C=	ENSP00000496664.1:n.*505C=
ENST00000644895.1:c.*99+6116C=	ENSP00000493872.1:n.*99+6116C=
ENST00000645345.1:c.*751C=	ENSP00000495859.1:n.*751C=
ENST00000647524.1:c.*762C=	ENSP00000495077.1:n.*762C=
ENST00000373189.5:c.1179C=	ENSP00000362285.5:p.Phe393=
ENST00000469204.1:n.676C=
NM_001174098.1:c.*408C=	NP_001167569.1:n.*408C=
NM_018344.5:c.1179C=	NP_060814.4:p.Phe393=
NR_033413.1:n.1153C=
NR_033414.1:n.926C=
XM_006717910.2:c.945C=	XP_006717973.1:p.Phe315=
NM_001363518.1:c.945C=	NP_001350447.1:p.Phe315=
XM_017016377.2:c.741C=	XP_016871866.1:p.Phe247=
XM_017016378.2:c.561C=	XP_016871867.1:p.Phe187=
NM_018344.6:c.1179C= MANE Select	NP_060814.4:p.Phe393=
NM_001174098.2:c.*408C=	NP_001167569.1:n.*408C=
NM_001363518.2:c.945C=	NP_001350447.1:p.Phe315=
NR_033413.2:n.1147C=
NR_033414.2:n.920C=