Canonical Allele Identifier: CA5543217

Gene: SLC29A3

Linked Data

• dbSNP Id: rs780680
• ExAC: 10:73122468 G / A
• gnomAD v2: 10-73122468-G-A
• gnomAD v4: 10-71362711-G-A
• MyVariant Identifiers: chr10:g.73122468G>A (hg19) ; chr10:g.71362711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362711G>A , CM000672.2:g.71362711G>A	GRCh38
NC_000010.10:g.73122468G>A , CM000672.1:g.73122468G>A	GRCh37
NC_000010.9:g.72792474G>A	NCBI36
NG_017066.1:g.48459G>A
NG_017066.2:g.48453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3007G>A
ENST00000373189.6:c.*103G>A MANE Select	ENSP00000362285.5:n.*103G>A
ENST00000479577.2:c.*103G>A	ENSP00000493995.1:n.*103G>A
ENST00000642198.1:c.*1103G>A	ENSP00000494827.1:n.*1103G>A
ENST00000642772.1:c.*94+6468G>A	ENSP00000495041.1:n.*94+6468G>A
ENST00000643042.1:c.1152G>A	ENSP00000496674.1:n.1152G>A
ENST00000643619.1:c.*1114G>A	ENSP00000494378.1:n.*1114G>A
ENST00000643752.1:c.*857G>A	ENSP00000495000.1:n.*857G>A
ENST00000644088.1:c.*852G>A	ENSP00000494066.1:n.*852G>A
ENST00000644591.1:c.*857G>A	ENSP00000496664.1:n.*857G>A
ENST00000644895.1:c.*99+6468G>A	ENSP00000493872.1:n.*99+6468G>A
ENST00000645345.1:c.*1103G>A	ENSP00000495859.1:n.*1103G>A
ENST00000647524.1:c.*1114G>A	ENSP00000495077.1:n.*1114G>A
ENST00000373189.5:c.*103G>A	ENSP00000362285.5:n.*103G>A
NM_001174098.1:c.*760G>A	NP_001167569.1:n.*760G>A
NM_018344.5:c.*103G>A	NP_060814.4:n.*103G>A
NR_033413.1:n.1505G>A
NR_033414.1:n.1278G>A
XM_006717910.2:c.*103G>A	XP_006717973.1:n.*103G>A
NM_001363518.1:c.*103G>A	NP_001350447.1:n.*103G>A
XM_017016377.2:c.*103G>A	XP_016871866.1:n.*103G>A
XM_017016378.2:c.*103G>A	XP_016871867.1:n.*103G>A
NM_018344.6:c.*103G>A MANE Select	NP_060814.4:n.*103G>A
NM_001174098.2:c.*760G>A	NP_001167569.1:n.*760G>A
NM_001363518.2:c.*103G>A	NP_001350447.1:n.*103G>A
NR_033413.2:n.1499G>A
NR_033414.2:n.1272G>A