Canonical Allele Identifier: CA377113978

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121757G>A (hg19) ; chr10:g.71362000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362000G>A , CM000672.2:g.71362000G>A	GRCh38
NC_000010.10:g.73121757G>A , CM000672.1:g.73121757G>A	GRCh37
NC_000010.9:g.72791763G>A	NCBI36
NG_017066.1:g.47748G>A
NG_017066.2:g.47742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2296G>A
ENST00000373189.6:c.820G>A MANE Select	ENSP00000362285.5:p.Glu274Lys
ENST00000479577.2:c.586G>A	ENSP00000493995.1:p.Glu196Lys
ENST00000642198.1:c.*392G>A	ENSP00000494827.1:n.*392G>A
ENST00000642772.1:c.*94+5757G>A	ENSP00000495041.1:n.*94+5757G>A
ENST00000643042.1:c.441G>A	ENSP00000496674.1:n.441G>A
ENST00000643619.1:c.*403G>A	ENSP00000494378.1:n.*403G>A
ENST00000643752.1:c.*146G>A	ENSP00000495000.1:n.*146G>A
ENST00000644088.1:c.*141G>A	ENSP00000494066.1:n.*141G>A
ENST00000644591.1:c.*146G>A	ENSP00000496664.1:n.*146G>A
ENST00000644895.1:c.*99+5757G>A	ENSP00000493872.1:n.*99+5757G>A
ENST00000645345.1:c.*392G>A	ENSP00000495859.1:n.*392G>A
ENST00000647524.1:c.*403G>A	ENSP00000495077.1:n.*403G>A
ENST00000373189.5:c.820G>A	ENSP00000362285.5:p.Glu274Lys
ENST00000469204.1:n.317G>A
NM_001174098.1:c.*49G>A	NP_001167569.1:n.*49G>A
NM_018344.5:c.820G>A	NP_060814.4:p.Glu274Lys
NR_033413.1:n.794G>A
NR_033414.1:n.567G>A
XM_006717910.2:c.586G>A	XP_006717973.1:p.Glu196Lys
NM_001363518.1:c.586G>A	NP_001350447.1:p.Glu196Lys
XM_017016377.2:c.382G>A	XP_016871866.1:p.Glu128Lys
XM_017016378.2:c.202G>A	XP_016871867.1:p.Glu68Lys
NM_018344.6:c.820G>A MANE Select	NP_060814.4:p.Glu274Lys
NM_001174098.2:c.*49G>A	NP_001167569.1:n.*49G>A
NM_001363518.2:c.586G>A	NP_001350447.1:p.Glu196Lys
NR_033413.2:n.788G>A
NR_033414.2:n.561G>A