Canonical Allele Identifier: CA377113987

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121758A>T (hg19) ; chr10:g.71362001A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362001A>T , CM000672.2:g.71362001A>T	GRCh38
NC_000010.10:g.73121758A>T , CM000672.1:g.73121758A>T	GRCh37
NC_000010.9:g.72791764A>T	NCBI36
NG_017066.1:g.47749A>T
NG_017066.2:g.47743A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2297A>T
ENST00000373189.6:c.821A>T MANE Select	ENSP00000362285.5:p.Glu274Val
ENST00000479577.2:c.587A>T	ENSP00000493995.1:p.Glu196Val
ENST00000642198.1:c.*393A>T	ENSP00000494827.1:n.*393A>T
ENST00000642772.1:c.*94+5758A>T	ENSP00000495041.1:n.*94+5758A>T
ENST00000643042.1:c.442A>T	ENSP00000496674.1:n.442A>T
ENST00000643619.1:c.*404A>T	ENSP00000494378.1:n.*404A>T
ENST00000643752.1:c.*147A>T	ENSP00000495000.1:n.*147A>T
ENST00000644088.1:c.*142A>T	ENSP00000494066.1:n.*142A>T
ENST00000644591.1:c.*147A>T	ENSP00000496664.1:n.*147A>T
ENST00000644895.1:c.*99+5758A>T	ENSP00000493872.1:n.*99+5758A>T
ENST00000645345.1:c.*393A>T	ENSP00000495859.1:n.*393A>T
ENST00000647524.1:c.*404A>T	ENSP00000495077.1:n.*404A>T
ENST00000373189.5:c.821A>T	ENSP00000362285.5:p.Glu274Val
ENST00000469204.1:n.318A>T
NM_001174098.1:c.*50A>T	NP_001167569.1:n.*50A>T
NM_018344.5:c.821A>T	NP_060814.4:p.Glu274Val
NR_033413.1:n.795A>T
NR_033414.1:n.568A>T
XM_006717910.2:c.587A>T	XP_006717973.1:p.Glu196Val
NM_001363518.1:c.587A>T	NP_001350447.1:p.Glu196Val
XM_017016377.2:c.383A>T	XP_016871866.1:p.Glu128Val
XM_017016378.2:c.203A>T	XP_016871867.1:p.Glu68Val
NM_018344.6:c.821A>T MANE Select	NP_060814.4:p.Glu274Val
NM_001174098.2:c.*50A>T	NP_001167569.1:n.*50A>T
NM_001363518.2:c.587A>T	NP_001350447.1:p.Glu196Val
NR_033413.2:n.789A>T
NR_033414.2:n.562A>T