Canonical Allele Identifier: CA155250

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 130346
• ClinVar RCV Id: RCV000118384 ; RCV000312318 ; RCV001572870
• dbSNP Id: rs79737301
• ExAC: 10:73121779 T / C
• gnomAD v2: 10-73121779-T-C
• gnomAD v3: 10-71362022-T-C
• gnomAD v4: 10-71362022-T-C
• MyVariant Identifiers: chr10:g.73121779T>C (hg19) ; chr10:g.71362022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362022T>C , CM000672.2:g.71362022T>C	GRCh38
NC_000010.10:g.73121779T>C , CM000672.1:g.73121779T>C	GRCh37
NC_000010.9:g.72791785T>C	NCBI36
NG_017066.1:g.47770T>C
NG_017066.2:g.47764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2318T>C
ENST00000373189.6:c.842T>C MANE Select	ENSP00000362285.5:p.Leu281Pro
ENST00000479577.2:c.608T>C	ENSP00000493995.1:p.Leu203Pro
ENST00000642198.1:c.*414T>C	ENSP00000494827.1:n.*414T>C
ENST00000642772.1:c.*94+5779T>C	ENSP00000495041.1:n.*94+5779T>C
ENST00000643042.1:c.463T>C	ENSP00000496674.1:n.463T>C
ENST00000643619.1:c.*425T>C	ENSP00000494378.1:n.*425T>C
ENST00000643752.1:c.*168T>C	ENSP00000495000.1:n.*168T>C
ENST00000644088.1:c.*163T>C	ENSP00000494066.1:n.*163T>C
ENST00000644591.1:c.*168T>C	ENSP00000496664.1:n.*168T>C
ENST00000644895.1:c.*99+5779T>C	ENSP00000493872.1:n.*99+5779T>C
ENST00000645345.1:c.*414T>C	ENSP00000495859.1:n.*414T>C
ENST00000647524.1:c.*425T>C	ENSP00000495077.1:n.*425T>C
ENST00000373189.5:c.842T>C	ENSP00000362285.5:p.Leu281Pro
ENST00000469204.1:n.339T>C
NM_001174098.1:c.*71T>C	NP_001167569.1:n.*71T>C
NM_018344.5:c.842T>C	NP_060814.4:p.Leu281Pro
NR_033413.1:n.816T>C
NR_033414.1:n.589T>C
XM_006717910.2:c.608T>C	XP_006717973.1:p.Leu203Pro
NM_001363518.1:c.608T>C	NP_001350447.1:p.Leu203Pro
XM_017016377.2:c.404T>C	XP_016871866.1:p.Leu135Pro
XM_017016378.2:c.224T>C	XP_016871867.1:p.Leu75Pro
NM_018344.6:c.842T>C MANE Select	NP_060814.4:p.Leu281Pro
NM_001174098.2:c.*71T>C	NP_001167569.1:n.*71T>C
NM_001363518.2:c.608T>C	NP_001350447.1:p.Leu203Pro
NR_033413.2:n.810T>C
NR_033414.2:n.583T>C