Canonical Allele Identifier: CA470281515

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122201C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362444C>T , CM000672.2:g.71362444C>T	GRCh38
NC_000010.10:g.73122201C>T , CM000672.1:g.73122201C>T	GRCh37
NC_000010.9:g.72792207C>T	NCBI36
NG_017066.1:g.48192C>T
NG_017066.2:g.48186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2740C>T
ENST00000373189.6:c.1264C>T MANE Select	ENSP00000362285.5:p.Leu422=
ENST00000479577.2:c.1030C>T	ENSP00000493995.1:p.Leu344=
ENST00000642198.1:c.*836C>T	ENSP00000494827.1:n.*836C>T
ENST00000642772.1:c.*94+6201C>T	ENSP00000495041.1:n.*94+6201C>T
ENST00000643042.1:c.885C>T	ENSP00000496674.1:n.885C>T
ENST00000643619.1:c.*847C>T	ENSP00000494378.1:n.*847C>T
ENST00000643752.1:c.*590C>T	ENSP00000495000.1:n.*590C>T
ENST00000644088.1:c.*585C>T	ENSP00000494066.1:n.*585C>T
ENST00000644591.1:c.*590C>T	ENSP00000496664.1:n.*590C>T
ENST00000644895.1:c.*99+6201C>T	ENSP00000493872.1:n.*99+6201C>T
ENST00000645345.1:c.*836C>T	ENSP00000495859.1:n.*836C>T
ENST00000647524.1:c.*847C>T	ENSP00000495077.1:n.*847C>T
ENST00000373189.5:c.1264C>T	ENSP00000362285.5:p.Leu422=
ENST00000469204.1:n.761C>T
NM_001174098.1:c.*493C>T	NP_001167569.1:n.*493C>T
NM_018344.5:c.1264C>T	NP_060814.4:p.Leu422=
NR_033413.1:n.1238C>T
NR_033414.1:n.1011C>T
XM_006717910.2:c.1030C>T	XP_006717973.1:p.Leu344=
NM_001363518.1:c.1030C>T	NP_001350447.1:p.Leu344=
XM_017016377.2:c.826C>T	XP_016871866.1:p.Leu276=
XM_017016378.2:c.646C>T	XP_016871867.1:p.Leu216=
NM_018344.6:c.1264C>T MANE Select	NP_060814.4:p.Leu422=
NM_001174098.2:c.*493C>T	NP_001167569.1:n.*493C>T
NM_001363518.2:c.1030C>T	NP_001350447.1:p.Leu344=
NR_033413.2:n.1232C>T
NR_033414.2:n.1005C>T