Canonical Allele Identifier: CA155238

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 130339
• ClinVar RCV Id: RCV000118377
• dbSNP Id: rs587780463
• ExAC: 10:73082812 G / A
• gnomAD v2: 10-73082812-G-A
• gnomAD v3: 10-71323055-G-A
• gnomAD v4: 10-71323055-G-A
• MyVariant Identifiers: chr10:g.73082812G>A (hg19) ; chr10:g.71323055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71323055G>A , CM000672.2:g.71323055G>A	GRCh38
NC_000010.10:g.73082812G>A , CM000672.1:g.73082812G>A	GRCh37
NC_000010.9:g.72752818G>A	NCBI36
NG_017066.1:g.8803G>A
NG_017066.2:g.8797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.746+1G>A
ENST00000373189.6:c.300+1G>A MANE Select	ENSP00000362285.5:n.300+1G>A
ENST00000479577.2:c.66+1G>A	ENSP00000493995.1:n.66+1G>A
ENST00000642198.1:c.66+1G>A	ENSP00000494827.1:n.66+1G>A
ENST00000642772.1:c.300+1G>A	ENSP00000495041.1:n.300+1G>A
ENST00000643042.1:c.231+1G>A	ENSP00000496674.1:n.231+1G>A
ENST00000643619.1:c.66+1G>A	ENSP00000494378.1:n.66+1G>A
ENST00000643752.1:c.300+1G>A	ENSP00000495000.1:n.300+1G>A
ENST00000644088.1:c.300+1G>A	ENSP00000494066.1:n.300+1G>A
ENST00000644591.1:c.300+1G>A	ENSP00000496664.1:n.300+1G>A
ENST00000644895.1:c.300+1G>A	ENSP00000493872.1:n.300+1G>A
ENST00000645345.1:c.300+1G>A	ENSP00000495859.1:n.300+1G>A
ENST00000647524.1:c.300+1G>A	ENSP00000495077.1:n.300+1G>A
ENST00000373189.5:c.300+1G>A	ENSP00000362285.5:n.300+1G>A
NM_001174098.1:c.300+1G>A	NP_001167569.1:n.300+1G>A
NM_018344.5:c.300+1G>A	NP_060814.4:n.300+1G>A
NR_033413.1:n.357+1G>A
NR_033414.1:n.357+1G>A
XM_006717910.2:c.66+1G>A	XP_006717973.1:n.66+1G>A
NM_001363518.1:c.66+1G>A	NP_001350447.1:n.66+1G>A
XM_017016377.2:c.-56+1G>A	XP_016871866.1:n.-56+1G>A
XM_017016378.2:c.-9+1G>A	XP_016871867.1:n.-9+1G>A
NM_018344.6:c.300+1G>A MANE Select	NP_060814.4:n.300+1G>A
NM_001174098.2:c.300+1G>A	NP_001167569.1:n.300+1G>A
NM_001363518.2:c.66+1G>A	NP_001350447.1:n.66+1G>A
NR_033413.2:n.351+1G>A
NR_033414.2:n.351+1G>A