Canonical Allele Identifier: CA5543069

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 566799
• ClinVar RCV Id: RCV000686712 ; RCV002544758
• dbSNP Id: rs368747183
• ExAC: 10:73121799 T / A
• gnomAD v2: 10-73121799-T-A
• gnomAD v3: 10-71362042-T-A
• gnomAD v4: 10-71362042-T-A
• MyVariant Identifiers: chr10:g.73121799T>A (hg19) ; chr10:g.71362042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362042T>A , CM000672.2:g.71362042T>A	GRCh38
NC_000010.10:g.73121799T>A , CM000672.1:g.73121799T>A	GRCh37
NC_000010.9:g.72791805T>A	NCBI36
NG_017066.1:g.47790T>A
NG_017066.2:g.47784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2338T>A
ENST00000373189.6:c.862T>A MANE Select	ENSP00000362285.5:p.Ser288Thr
ENST00000479577.2:c.628T>A	ENSP00000493995.1:p.Ser210Thr
ENST00000642198.1:c.*434T>A	ENSP00000494827.1:n.*434T>A
ENST00000642772.1:c.*94+5799T>A	ENSP00000495041.1:n.*94+5799T>A
ENST00000643042.1:c.483T>A	ENSP00000496674.1:n.483T>A
ENST00000643619.1:c.*445T>A	ENSP00000494378.1:n.*445T>A
ENST00000643752.1:c.*188T>A	ENSP00000495000.1:n.*188T>A
ENST00000644088.1:c.*183T>A	ENSP00000494066.1:n.*183T>A
ENST00000644591.1:c.*188T>A	ENSP00000496664.1:n.*188T>A
ENST00000644895.1:c.*99+5799T>A	ENSP00000493872.1:n.*99+5799T>A
ENST00000645345.1:c.*434T>A	ENSP00000495859.1:n.*434T>A
ENST00000647524.1:c.*445T>A	ENSP00000495077.1:n.*445T>A
ENST00000373189.5:c.862T>A	ENSP00000362285.5:p.Ser288Thr
ENST00000469204.1:n.359T>A
NM_001174098.1:c.*91T>A	NP_001167569.1:n.*91T>A
NM_018344.5:c.862T>A	NP_060814.4:p.Ser288Thr
NR_033413.1:n.836T>A
NR_033414.1:n.609T>A
XM_006717910.2:c.628T>A	XP_006717973.1:p.Ser210Thr
NM_001363518.1:c.628T>A	NP_001350447.1:p.Ser210Thr
XM_017016377.2:c.424T>A	XP_016871866.1:p.Ser142Thr
XM_017016378.2:c.244T>A	XP_016871867.1:p.Ser82Thr
NM_018344.6:c.862T>A MANE Select	NP_060814.4:p.Ser288Thr
NM_001174098.2:c.*91T>A	NP_001167569.1:n.*91T>A
NM_001363518.2:c.628T>A	NP_001350447.1:p.Ser210Thr
NR_033413.2:n.830T>A
NR_033414.2:n.603T>A