Canonical Allele Identifier: CA5543094

Gene: SLC29A3

Linked Data

• dbSNP Id: rs764932516
• ExAC: 10:73121898 C / G
• gnomAD v2: 10-73121898-C-G
• gnomAD v4: 10-71362141-C-G
• MyVariant Identifiers: chr10:g.73121898C>G (hg19) ; chr10:g.71362141C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362141C>G , CM000672.2:g.71362141C>G	GRCh38
NC_000010.10:g.73121898C>G , CM000672.1:g.73121898C>G	GRCh37
NC_000010.9:g.72791904C>G	NCBI36
NG_017066.1:g.47889C>G
NG_017066.2:g.47883C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2437C>G
ENST00000373189.6:c.961C>G MANE Select	ENSP00000362285.5:p.Leu321Val
ENST00000479577.2:c.727C>G	ENSP00000493995.1:p.Leu243Val
ENST00000642198.1:c.*533C>G	ENSP00000494827.1:n.*533C>G
ENST00000642772.1:c.*94+5898C>G	ENSP00000495041.1:n.*94+5898C>G
ENST00000643042.1:c.582C>G	ENSP00000496674.1:n.582C>G
ENST00000643619.1:c.*544C>G	ENSP00000494378.1:n.*544C>G
ENST00000643752.1:c.*287C>G	ENSP00000495000.1:n.*287C>G
ENST00000644088.1:c.*282C>G	ENSP00000494066.1:n.*282C>G
ENST00000644591.1:c.*287C>G	ENSP00000496664.1:n.*287C>G
ENST00000644895.1:c.*99+5898C>G	ENSP00000493872.1:n.*99+5898C>G
ENST00000645345.1:c.*533C>G	ENSP00000495859.1:n.*533C>G
ENST00000647524.1:c.*544C>G	ENSP00000495077.1:n.*544C>G
ENST00000373189.5:c.961C>G	ENSP00000362285.5:p.Leu321Val
ENST00000469204.1:n.458C>G
NM_001174098.1:c.*190C>G	NP_001167569.1:n.*190C>G
NM_018344.5:c.961C>G	NP_060814.4:p.Leu321Val
NR_033413.1:n.935C>G
NR_033414.1:n.708C>G
XM_006717910.2:c.727C>G	XP_006717973.1:p.Leu243Val
NM_001363518.1:c.727C>G	NP_001350447.1:p.Leu243Val
XM_017016377.2:c.523C>G	XP_016871866.1:p.Leu175Val
XM_017016378.2:c.343C>G	XP_016871867.1:p.Leu115Val
NM_018344.6:c.961C>G MANE Select	NP_060814.4:p.Leu321Val
NM_001174098.2:c.*190C>G	NP_001167569.1:n.*190C>G
NM_001363518.2:c.727C>G	NP_001350447.1:p.Leu243Val
NR_033413.2:n.929C>G
NR_033414.2:n.702C>G