Canonical Allele Identifier: CA377114384

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 969066
• ClinVar RCV Id: RCV001244325
• dbSNP Id: rs1847070217
• MyVariant Identifiers: chr10:g.73121811G>C (hg19) ; chr10:g.71362054G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362054G>C , CM000672.2:g.71362054G>C	GRCh38
NC_000010.10:g.73121811G>C , CM000672.1:g.73121811G>C	GRCh37
NC_000010.9:g.72791817G>C	NCBI36
NG_017066.1:g.47802G>C
NG_017066.2:g.47796G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2350G>C
ENST00000373189.6:c.874G>C MANE Select	ENSP00000362285.5:p.Asp292His
ENST00000479577.2:c.640G>C	ENSP00000493995.1:p.Asp214His
ENST00000642198.1:c.*446G>C	ENSP00000494827.1:n.*446G>C
ENST00000642772.1:c.*94+5811G>C	ENSP00000495041.1:n.*94+5811G>C
ENST00000643042.1:c.495G>C	ENSP00000496674.1:n.495G>C
ENST00000643619.1:c.*457G>C	ENSP00000494378.1:n.*457G>C
ENST00000643752.1:c.*200G>C	ENSP00000495000.1:n.*200G>C
ENST00000644088.1:c.*195G>C	ENSP00000494066.1:n.*195G>C
ENST00000644591.1:c.*200G>C	ENSP00000496664.1:n.*200G>C
ENST00000644895.1:c.*99+5811G>C	ENSP00000493872.1:n.*99+5811G>C
ENST00000645345.1:c.*446G>C	ENSP00000495859.1:n.*446G>C
ENST00000647524.1:c.*457G>C	ENSP00000495077.1:n.*457G>C
ENST00000373189.5:c.874G>C	ENSP00000362285.5:p.Asp292His
ENST00000469204.1:n.371G>C
NM_001174098.1:c.*103G>C	NP_001167569.1:n.*103G>C
NM_018344.5:c.874G>C	NP_060814.4:p.Asp292His
NR_033413.1:n.848G>C
NR_033414.1:n.621G>C
XM_006717910.2:c.640G>C	XP_006717973.1:p.Asp214His
NM_001363518.1:c.640G>C	NP_001350447.1:p.Asp214His
XM_017016377.2:c.436G>C	XP_016871866.1:p.Asp146His
XM_017016378.2:c.256G>C	XP_016871867.1:p.Asp86His
NM_018344.6:c.874G>C MANE Select	NP_060814.4:p.Asp292His
NM_001174098.2:c.*103G>C	NP_001167569.1:n.*103G>C
NM_001363518.2:c.640G>C	NP_001350447.1:p.Asp214His
NR_033413.2:n.842G>C
NR_033414.2:n.615G>C