Canonical Allele Identifier: CA470281408

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122149G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362392G>C , CM000672.2:g.71362392G>C	GRCh38
NC_000010.10:g.73122149G>C , CM000672.1:g.73122149G>C	GRCh37
NC_000010.9:g.72792155G>C	NCBI36
NG_017066.1:g.48140G>C
NG_017066.2:g.48134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2688G>C
ENST00000373189.6:c.1212G>C MANE Select	ENSP00000362285.5:p.Leu404=
ENST00000479577.2:c.978G>C	ENSP00000493995.1:p.Leu326=
ENST00000642198.1:c.*784G>C	ENSP00000494827.1:n.*784G>C
ENST00000642772.1:c.*94+6149G>C	ENSP00000495041.1:n.*94+6149G>C
ENST00000643042.1:c.833G>C	ENSP00000496674.1:n.833G>C
ENST00000643619.1:c.*795G>C	ENSP00000494378.1:n.*795G>C
ENST00000643752.1:c.*538G>C	ENSP00000495000.1:n.*538G>C
ENST00000644088.1:c.*533G>C	ENSP00000494066.1:n.*533G>C
ENST00000644591.1:c.*538G>C	ENSP00000496664.1:n.*538G>C
ENST00000644895.1:c.*99+6149G>C	ENSP00000493872.1:n.*99+6149G>C
ENST00000645345.1:c.*784G>C	ENSP00000495859.1:n.*784G>C
ENST00000647524.1:c.*795G>C	ENSP00000495077.1:n.*795G>C
ENST00000373189.5:c.1212G>C	ENSP00000362285.5:p.Leu404=
ENST00000469204.1:n.709G>C
NM_001174098.1:c.*441G>C	NP_001167569.1:n.*441G>C
NM_018344.5:c.1212G>C	NP_060814.4:p.Leu404=
NR_033413.1:n.1186G>C
NR_033414.1:n.959G>C
XM_006717910.2:c.978G>C	XP_006717973.1:p.Leu326=
NM_001363518.1:c.978G>C	NP_001350447.1:p.Leu326=
XM_017016377.2:c.774G>C	XP_016871866.1:p.Leu258=
XM_017016378.2:c.594G>C	XP_016871867.1:p.Leu198=
NM_018344.6:c.1212G>C MANE Select	NP_060814.4:p.Leu404=
NM_001174098.2:c.*441G>C	NP_001167569.1:n.*441G>C
NM_001363518.2:c.978G>C	NP_001350447.1:p.Leu326=
NR_033413.2:n.1180G>C
NR_033414.2:n.953G>C