Canonical Allele Identifier: CA5543055

Gene: SLC29A3

Linked Data

• dbSNP Id: rs752315213
• ExAC: 10:73121730 C / G
• gnomAD v2: 10-73121730-C-G
• MyVariant Identifiers: chr10:g.73121730C>G (hg19) ; chr10:g.71361973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361973C>G , CM000672.2:g.71361973C>G	GRCh38
NC_000010.10:g.73121730C>G , CM000672.1:g.73121730C>G	GRCh37
NC_000010.9:g.72791736C>G	NCBI36
NG_017066.1:g.47721C>G
NG_017066.2:g.47715C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2269C>G
ENST00000373189.6:c.793C>G MANE Select	ENSP00000362285.5:p.Leu265Val
ENST00000479577.2:c.559C>G	ENSP00000493995.1:p.Leu187Val
ENST00000642198.1:c.*365C>G	ENSP00000494827.1:n.*365C>G
ENST00000642772.1:c.*94+5730C>G	ENSP00000495041.1:n.*94+5730C>G
ENST00000643042.1:c.414C>G	ENSP00000496674.1:n.414C>G
ENST00000643619.1:c.*376C>G	ENSP00000494378.1:n.*376C>G
ENST00000643752.1:c.*119C>G	ENSP00000495000.1:n.*119C>G
ENST00000644088.1:c.*114C>G	ENSP00000494066.1:n.*114C>G
ENST00000644591.1:c.*119C>G	ENSP00000496664.1:n.*119C>G
ENST00000644895.1:c.*99+5730C>G	ENSP00000493872.1:n.*99+5730C>G
ENST00000645345.1:c.*365C>G	ENSP00000495859.1:n.*365C>G
ENST00000647524.1:c.*376C>G	ENSP00000495077.1:n.*376C>G
ENST00000373189.5:c.793C>G	ENSP00000362285.5:p.Leu265Val
ENST00000469204.1:n.290C>G
NM_001174098.1:c.*22C>G	NP_001167569.1:n.*22C>G
NM_018344.5:c.793C>G	NP_060814.4:p.Leu265Val
NR_033413.1:n.767C>G
NR_033414.1:n.540C>G
XM_006717910.2:c.559C>G	XP_006717973.1:p.Leu187Val
NM_001363518.1:c.559C>G	NP_001350447.1:p.Leu187Val
XM_017016377.2:c.355C>G	XP_016871866.1:p.Leu119Val
XM_017016378.2:c.175C>G	XP_016871867.1:p.Leu59Val
NM_018344.6:c.793C>G MANE Select	NP_060814.4:p.Leu265Val
NM_001174098.2:c.*22C>G	NP_001167569.1:n.*22C>G
NM_001363518.2:c.559C>G	NP_001350447.1:p.Leu187Val
NR_033413.2:n.761C>G
NR_033414.2:n.534C>G