Canonical Allele Identifier: CA5543101

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 709157
• ClinVar RCV Id: RCV000880516 ; RCV003456454 ; RCV003930515
• dbSNP Id: rs147814367
• ExAC: 10:73121924 C / T
• gnomAD v2: 10-73121924-C-T
• gnomAD v3: 10-71362167-C-T
• gnomAD v4: 10-71362167-C-T
• MyVariant Identifiers: chr10:g.73121924C>T (hg19) ; chr10:g.71362167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362167C>T , CM000672.2:g.71362167C>T	GRCh38
NC_000010.10:g.73121924C>T , CM000672.1:g.73121924C>T	GRCh37
NC_000010.9:g.72791930C>T	NCBI36
NG_017066.1:g.47915C>T
NG_017066.2:g.47909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2463C>T
ENST00000373189.6:c.987C>T MANE Select	ENSP00000362285.5:p.Asn329=
ENST00000479577.2:c.753C>T	ENSP00000493995.1:p.Asn251=
ENST00000642198.1:c.*559C>T	ENSP00000494827.1:n.*559C>T
ENST00000642772.1:c.*94+5924C>T	ENSP00000495041.1:n.*94+5924C>T
ENST00000643042.1:c.608C>T	ENSP00000496674.1:n.608C>T
ENST00000643619.1:c.*570C>T	ENSP00000494378.1:n.*570C>T
ENST00000643752.1:c.*313C>T	ENSP00000495000.1:n.*313C>T
ENST00000644088.1:c.*308C>T	ENSP00000494066.1:n.*308C>T
ENST00000644591.1:c.*313C>T	ENSP00000496664.1:n.*313C>T
ENST00000644895.1:c.*99+5924C>T	ENSP00000493872.1:n.*99+5924C>T
ENST00000645345.1:c.*559C>T	ENSP00000495859.1:n.*559C>T
ENST00000647524.1:c.*570C>T	ENSP00000495077.1:n.*570C>T
ENST00000373189.5:c.987C>T	ENSP00000362285.5:p.Asn329=
ENST00000469204.1:n.484C>T
NM_001174098.1:c.*216C>T	NP_001167569.1:n.*216C>T
NM_018344.5:c.987C>T	NP_060814.4:p.Asn329=
NR_033413.1:n.961C>T
NR_033414.1:n.734C>T
XM_006717910.2:c.753C>T	XP_006717973.1:p.Asn251=
NM_001363518.1:c.753C>T	NP_001350447.1:p.Asn251=
XM_017016377.2:c.549C>T	XP_016871866.1:p.Asn183=
XM_017016378.2:c.369C>T	XP_016871867.1:p.Asn123=
NM_018344.6:c.987C>T MANE Select	NP_060814.4:p.Asn329=
NM_001174098.2:c.*216C>T	NP_001167569.1:n.*216C>T
NM_001363518.2:c.753C>T	NP_001350447.1:p.Asn251=
NR_033413.2:n.955C>T
NR_033414.2:n.728C>T