Canonical Allele Identifier: CA377113993

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1514592
• ClinVar RCV Id: RCV002048297
• dbSNP Id: rs1847067185
• gnomAD v4: 10-71362001-A-G
• MyVariant Identifiers: chr10:g.73121758A>G (hg19) ; chr10:g.71362001A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2297A>G
ENST00000373189.6:c.821A>G MANE Select	ENSP00000362285.5:p.Glu274Gly
ENST00000479577.2:c.587A>G	ENSP00000493995.1:p.Glu196Gly
ENST00000642198.1:c.*393A>G	ENSP00000494827.1:n.*393A>G
ENST00000642772.1:c.*94+5758A>G	ENSP00000495041.1:n.*94+5758A>G
ENST00000643042.1:c.442A>G	ENSP00000496674.1:n.442A>G
ENST00000643619.1:c.*404A>G	ENSP00000494378.1:n.*404A>G
ENST00000643752.1:c.*147A>G	ENSP00000495000.1:n.*147A>G
ENST00000644088.1:c.*142A>G	ENSP00000494066.1:n.*142A>G
ENST00000644591.1:c.*147A>G	ENSP00000496664.1:n.*147A>G
ENST00000644895.1:c.*99+5758A>G	ENSP00000493872.1:n.*99+5758A>G
ENST00000645345.1:c.*393A>G	ENSP00000495859.1:n.*393A>G
ENST00000647524.1:c.*404A>G	ENSP00000495077.1:n.*404A>G
ENST00000373189.5:c.821A>G	ENSP00000362285.5:p.Glu274Gly
ENST00000469204.1:n.318A>G
NM_001174098.1:c.*50A>G	NP_001167569.1:n.*50A>G
NM_018344.5:c.821A>G	NP_060814.4:p.Glu274Gly
NR_033413.1:n.795A>G
NR_033414.1:n.568A>G
XM_006717910.2:c.587A>G	XP_006717973.1:p.Glu196Gly
NM_001363518.1:c.587A>G	NP_001350447.1:p.Glu196Gly
XM_017016377.2:c.383A>G	XP_016871866.1:p.Glu128Gly
XM_017016378.2:c.203A>G	XP_016871867.1:p.Glu68Gly
NM_018344.6:c.821A>G MANE Select	NP_060814.4:p.Glu274Gly
NM_001174098.2:c.*50A>G	NP_001167569.1:n.*50A>G
NM_001363518.2:c.587A>G	NP_001350447.1:p.Glu196Gly
NR_033413.2:n.789A>G
NR_033414.2:n.562A>G