Canonical Allele Identifier: CA470281317

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121999G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362242G>C , CM000672.2:g.71362242G>C	GRCh38
NC_000010.10:g.73121999G>C , CM000672.1:g.73121999G>C	GRCh37
NC_000010.9:g.72792005G>C	NCBI36
NG_017066.1:g.47990G>C
NG_017066.2:g.47984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2538G>C
ENST00000373189.6:c.1062G>C MANE Select	ENSP00000362285.5:p.Leu354=
ENST00000479577.2:c.828G>C	ENSP00000493995.1:p.Leu276=
ENST00000642198.1:c.*634G>C	ENSP00000494827.1:n.*634G>C
ENST00000642772.1:c.*94+5999G>C	ENSP00000495041.1:n.*94+5999G>C
ENST00000643042.1:c.683G>C	ENSP00000496674.1:n.683G>C
ENST00000643619.1:c.*645G>C	ENSP00000494378.1:n.*645G>C
ENST00000643752.1:c.*388G>C	ENSP00000495000.1:n.*388G>C
ENST00000644088.1:c.*383G>C	ENSP00000494066.1:n.*383G>C
ENST00000644591.1:c.*388G>C	ENSP00000496664.1:n.*388G>C
ENST00000644895.1:c.*99+5999G>C	ENSP00000493872.1:n.*99+5999G>C
ENST00000645345.1:c.*634G>C	ENSP00000495859.1:n.*634G>C
ENST00000647524.1:c.*645G>C	ENSP00000495077.1:n.*645G>C
ENST00000373189.5:c.1062G>C	ENSP00000362285.5:p.Leu354=
ENST00000469204.1:n.559G>C
NM_001174098.1:c.*291G>C	NP_001167569.1:n.*291G>C
NM_018344.5:c.1062G>C	NP_060814.4:p.Leu354=
NR_033413.1:n.1036G>C
NR_033414.1:n.809G>C
XM_006717910.2:c.828G>C	XP_006717973.1:p.Leu276=
NM_001363518.1:c.828G>C	NP_001350447.1:p.Leu276=
XM_017016377.2:c.624G>C	XP_016871866.1:p.Leu208=
XM_017016378.2:c.444G>C	XP_016871867.1:p.Leu148=
NM_018344.6:c.1062G>C MANE Select	NP_060814.4:p.Leu354=
NM_001174098.2:c.*291G>C	NP_001167569.1:n.*291G>C
NM_001363518.2:c.828G>C	NP_001350447.1:p.Leu276=
NR_033413.2:n.1030G>C
NR_033414.2:n.803G>C