Canonical Allele Identifier: CA209388199

Gene: SLC29A3

Linked Data

• dbSNP Id: rs758061099
• gnomAD v4: 10-71362472-C-G
• MyVariant Identifiers: chr10:g.73122229C>G (hg19) ; chr10:g.71362472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362472C>G , CM000672.2:g.71362472C>G	GRCh38
NC_000010.10:g.73122229C>G , CM000672.1:g.73122229C>G	GRCh37
NC_000010.9:g.72792235C>G	NCBI36
NG_017066.1:g.48220C>G
NG_017066.2:g.48214C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2768C>G
ENST00000373189.6:c.1292C>G MANE Select	ENSP00000362285.5:p.Thr431Ser
ENST00000479577.2:c.1058C>G	ENSP00000493995.1:p.Thr353Ser
ENST00000642198.1:c.*864C>G	ENSP00000494827.1:n.*864C>G
ENST00000642772.1:c.*94+6229C>G	ENSP00000495041.1:n.*94+6229C>G
ENST00000643042.1:c.913C>G	ENSP00000496674.1:n.913C>G
ENST00000643619.1:c.*875C>G	ENSP00000494378.1:n.*875C>G
ENST00000643752.1:c.*618C>G	ENSP00000495000.1:n.*618C>G
ENST00000644088.1:c.*613C>G	ENSP00000494066.1:n.*613C>G
ENST00000644591.1:c.*618C>G	ENSP00000496664.1:n.*618C>G
ENST00000644895.1:c.*99+6229C>G	ENSP00000493872.1:n.*99+6229C>G
ENST00000645345.1:c.*864C>G	ENSP00000495859.1:n.*864C>G
ENST00000647524.1:c.*875C>G	ENSP00000495077.1:n.*875C>G
ENST00000373189.5:c.1292C>G	ENSP00000362285.5:p.Thr431Ser
ENST00000469204.1:n.789C>G
NM_001174098.1:c.*521C>G	NP_001167569.1:n.*521C>G
NM_018344.5:c.1292C>G	NP_060814.4:p.Thr431Ser
NR_033413.1:n.1266C>G
NR_033414.1:n.1039C>G
XM_006717910.2:c.1058C>G	XP_006717973.1:p.Thr353Ser
NM_001363518.1:c.1058C>G	NP_001350447.1:p.Thr353Ser
XM_017016377.2:c.854C>G	XP_016871866.1:p.Thr285Ser
XM_017016378.2:c.674C>G	XP_016871867.1:p.Thr225Ser
NM_018344.6:c.1292C>G MANE Select	NP_060814.4:p.Thr431Ser
NM_001174098.2:c.*521C>G	NP_001167569.1:n.*521C>G
NM_001363518.2:c.1058C>G	NP_001350447.1:p.Thr353Ser
NR_033413.2:n.1260C>G
NR_033414.2:n.1033C>G