Canonical Allele Identifier: CA1918678646

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847102246
• gnomAD v4: 10-71362731-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362731T>G , CM000672.2:g.71362731T>G	GRCh38
NC_000010.10:g.73122488T>G , CM000672.1:g.73122488T>G	GRCh37
NC_000010.9:g.72792494T>G	NCBI36
NG_017066.1:g.48479T>G
NG_017066.2:g.48473T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3027T>G
ENST00000373189.6:c.*123T>G MANE Select	ENSP00000362285.5:n.*123T>G
ENST00000479577.2:c.*123T>G	ENSP00000493995.1:n.*123T>G
ENST00000642198.1:c.*1123T>G	ENSP00000494827.1:n.*1123T>G
ENST00000642772.1:c.*94+6488T>G	ENSP00000495041.1:n.*94+6488T>G
ENST00000643042.1:c.1172T>G	ENSP00000496674.1:n.1172T>G
ENST00000643619.1:c.*1134T>G	ENSP00000494378.1:n.*1134T>G
ENST00000643752.1:c.*877T>G	ENSP00000495000.1:n.*877T>G
ENST00000644088.1:c.*872T>G	ENSP00000494066.1:n.*872T>G
ENST00000644591.1:c.*877T>G	ENSP00000496664.1:n.*877T>G
ENST00000644895.1:c.*99+6488T>G	ENSP00000493872.1:n.*99+6488T>G
ENST00000645345.1:c.*1123T>G	ENSP00000495859.1:n.*1123T>G
ENST00000647524.1:c.*1134T>G	ENSP00000495077.1:n.*1134T>G
ENST00000373189.5:c.*123T>G	ENSP00000362285.5:n.*123T>G
NM_001174098.1:c.*780T>G	NP_001167569.1:n.*780T>G
NM_018344.5:c.*123T>G	NP_060814.4:n.*123T>G
NR_033413.1:n.1525T>G
NR_033414.1:n.1298T>G
XM_006717910.2:c.*123T>G	XP_006717973.1:n.*123T>G
NM_001363518.1:c.*123T>G	NP_001350447.1:n.*123T>G
XM_017016377.2:c.*123T>G	XP_016871866.1:n.*123T>G
XM_017016378.2:c.*123T>G	XP_016871867.1:n.*123T>G
NM_018344.6:c.*123T>G MANE Select	NP_060814.4:n.*123T>G
NM_001174098.2:c.*780T>G	NP_001167569.1:n.*780T>G
NM_001363518.2:c.*123T>G	NP_001350447.1:n.*123T>G
NR_033413.2:n.1519T>G
NR_033414.2:n.1292T>G