Canonical Allele Identifier: CA5543121

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 863259
• ClinVar RCV Id: RCV001070191 ; RCV004030739
• dbSNP Id: rs150398575
• ExAC: 10:73122061 A / G
• gnomAD v2: 10-73122061-A-G
• gnomAD v3: 10-71362304-A-G
• gnomAD v4: 10-71362304-A-G
• MyVariant Identifiers: chr10:g.73122061A>G (hg19) ; chr10:g.71362304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362304A>G , CM000672.2:g.71362304A>G	GRCh38
NC_000010.10:g.73122061A>G , CM000672.1:g.73122061A>G	GRCh37
NC_000010.9:g.72792067A>G	NCBI36
NG_017066.1:g.48052A>G
NG_017066.2:g.48046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2600A>G
ENST00000373189.6:c.1124A>G MANE Select	ENSP00000362285.5:p.Asn375Ser
ENST00000479577.2:c.890A>G	ENSP00000493995.1:p.Asn297Ser
ENST00000642198.1:c.*696A>G	ENSP00000494827.1:n.*696A>G
ENST00000642772.1:c.*94+6061A>G	ENSP00000495041.1:n.*94+6061A>G
ENST00000643042.1:c.745A>G	ENSP00000496674.1:n.745A>G
ENST00000643619.1:c.*707A>G	ENSP00000494378.1:n.*707A>G
ENST00000643752.1:c.*450A>G	ENSP00000495000.1:n.*450A>G
ENST00000644088.1:c.*445A>G	ENSP00000494066.1:n.*445A>G
ENST00000644591.1:c.*450A>G	ENSP00000496664.1:n.*450A>G
ENST00000644895.1:c.*99+6061A>G	ENSP00000493872.1:n.*99+6061A>G
ENST00000645345.1:c.*696A>G	ENSP00000495859.1:n.*696A>G
ENST00000647524.1:c.*707A>G	ENSP00000495077.1:n.*707A>G
ENST00000373189.5:c.1124A>G	ENSP00000362285.5:p.Asn375Ser
ENST00000469204.1:n.621A>G
NM_001174098.1:c.*353A>G	NP_001167569.1:n.*353A>G
NM_018344.5:c.1124A>G	NP_060814.4:p.Asn375Ser
NR_033413.1:n.1098A>G
NR_033414.1:n.871A>G
XM_006717910.2:c.890A>G	XP_006717973.1:p.Asn297Ser
NM_001363518.1:c.890A>G	NP_001350447.1:p.Asn297Ser
XM_017016377.2:c.686A>G	XP_016871866.1:p.Asn229Ser
XM_017016378.2:c.506A>G	XP_016871867.1:p.Asn169Ser
NM_018344.6:c.1124A>G MANE Select	NP_060814.4:p.Asn375Ser
NM_001174098.2:c.*353A>G	NP_001167569.1:n.*353A>G
NM_001363518.2:c.890A>G	NP_001350447.1:p.Asn297Ser
NR_033413.2:n.1092A>G
NR_033414.2:n.865A>G