Canonical Allele Identifier: CA1918678384

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362170C= , CM000672.2:g.71362170C=	GRCh38
NC_000010.10:g.73121927C= , CM000672.1:g.73121927C=	GRCh37
NC_000010.9:g.72791933C=	NCBI36
NG_017066.1:g.47918C=
NG_017066.2:g.47912C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2466C=
ENST00000373189.6:c.990C= MANE Select	ENSP00000362285.5:p.Ile330=
ENST00000479577.2:c.756C=	ENSP00000493995.1:p.Ile252=
ENST00000642198.1:c.*562C=	ENSP00000494827.1:n.*562C=
ENST00000642772.1:c.*94+5927C=	ENSP00000495041.1:n.*94+5927C=
ENST00000643042.1:c.611C=	ENSP00000496674.1:n.611C=
ENST00000643619.1:c.*573C=	ENSP00000494378.1:n.*573C=
ENST00000643752.1:c.*316C=	ENSP00000495000.1:n.*316C=
ENST00000644088.1:c.*311C=	ENSP00000494066.1:n.*311C=
ENST00000644591.1:c.*316C=	ENSP00000496664.1:n.*316C=
ENST00000644895.1:c.*99+5927C=	ENSP00000493872.1:n.*99+5927C=
ENST00000645345.1:c.*562C=	ENSP00000495859.1:n.*562C=
ENST00000647524.1:c.*573C=	ENSP00000495077.1:n.*573C=
ENST00000373189.5:c.990C=	ENSP00000362285.5:p.Ile330=
ENST00000469204.1:n.487C=
NM_001174098.1:c.*219C=	NP_001167569.1:n.*219C=
NM_018344.5:c.990C=	NP_060814.4:p.Ile330=
NR_033413.1:n.964C=
NR_033414.1:n.737C=
XM_006717910.2:c.756C=	XP_006717973.1:p.Ile252=
NM_001363518.1:c.756C=	NP_001350447.1:p.Ile252=
XM_017016377.2:c.552C=	XP_016871866.1:p.Ile184=
XM_017016378.2:c.372C=	XP_016871867.1:p.Ile124=
NM_018344.6:c.990C= MANE Select	NP_060814.4:p.Ile330=
NM_001174098.2:c.*219C=	NP_001167569.1:n.*219C=
NM_001363518.2:c.756C=	NP_001350447.1:p.Ile252=
NR_033413.2:n.958C=
NR_033414.2:n.731C=