Canonical Allele Identifier: CA5542824

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 287285
• ClinVar RCV Id: RCV000389149 ; RCV000644615 ; RCV001701933 ; RCV002519284
• dbSNP Id: rs146764905
• ExAC: 10:73082639 T / G
• gnomAD v2: 10-73082639-T-G
• gnomAD v3: 10-71322882-T-G
• gnomAD v4: 10-71322882-T-G
• MyVariant Identifiers: chr10:g.73082639T>G (hg19) ; chr10:g.71322882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71322882T>G , CM000672.2:g.71322882T>G	GRCh38
NC_000010.10:g.73082639T>G , CM000672.1:g.73082639T>G	GRCh37
NC_000010.9:g.72752645T>G	NCBI36
NG_017066.1:g.8630T>G
NG_017066.2:g.8624T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.574T>G
ENST00000373189.6:c.128T>G MANE Select	ENSP00000362285.5:p.Leu43Arg
ENST00000479577.2:c.-107T>G	ENSP00000493995.1:n.-107T>G
ENST00000642198.1:c.-107T>G	ENSP00000494827.1:n.-107T>G
ENST00000642772.1:c.128T>G	ENSP00000495041.1:p.Leu43Arg
ENST00000643042.1:c.59T>G	ENSP00000496674.1:p.Leu20Arg
ENST00000643619.1:c.-107T>G	ENSP00000494378.1:n.-107T>G
ENST00000643752.1:c.128T>G	ENSP00000495000.1:p.Leu43Arg
ENST00000644088.1:c.128T>G	ENSP00000494066.1:p.Leu43Arg
ENST00000644591.1:c.128T>G	ENSP00000496664.1:p.Leu43Arg
ENST00000644895.1:c.128T>G	ENSP00000493872.1:p.Leu43Arg
ENST00000645345.1:c.128T>G	ENSP00000495859.1:p.Leu43Arg
ENST00000647524.1:c.128T>G	ENSP00000495077.1:p.Leu43Arg
ENST00000373189.5:c.128T>G	ENSP00000362285.5:p.Leu43Arg
ENST00000479577.1:n.577T>G
NM_001174098.1:c.128T>G	NP_001167569.1:p.Leu43Arg
NM_018344.5:c.128T>G	NP_060814.4:p.Leu43Arg
NR_033413.1:n.185T>G
NR_033414.1:n.185T>G
XM_006717910.2:c.-107T>G	XP_006717973.1:n.-107T>G
NM_001363518.1:c.-107T>G	NP_001350447.1:n.-107T>G
XM_017016377.2:c.-228T>G	XP_016871866.1:n.-228T>G
XM_017016378.2:c.-181T>G	XP_016871867.1:n.-181T>G
NM_018344.6:c.128T>G MANE Select	NP_060814.4:p.Leu43Arg
NM_001174098.2:c.128T>G	NP_001167569.1:p.Leu43Arg
NM_001363518.2:c.-107T>G	NP_001350447.1:n.-107T>G
NR_033413.2:n.179T>G
NR_033414.2:n.179T>G