Canonical Allele Identifier: CA5543110

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 652586
• ClinVar RCV Id: RCV000808166
• dbSNP Id: rs200249218
• ExAC: 10:73121947 C / T
• gnomAD v2: 10-73121947-C-T
• gnomAD v3: 10-71362190-C-T
• gnomAD v4: 10-71362190-C-T
• MyVariant Identifiers: chr10:g.73121947C>T (hg19) ; chr10:g.71362190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362190C>T , CM000672.2:g.71362190C>T	GRCh38
NC_000010.10:g.73121947C>T , CM000672.1:g.73121947C>T	GRCh37
NC_000010.9:g.72791953C>T	NCBI36
NG_017066.1:g.47938C>T
NG_017066.2:g.47932C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2486C>T
ENST00000373189.6:c.1010C>T MANE Select	ENSP00000362285.5:p.Ser337Leu
ENST00000479577.2:c.776C>T	ENSP00000493995.1:p.Ser259Leu
ENST00000642198.1:c.*582C>T	ENSP00000494827.1:n.*582C>T
ENST00000642772.1:c.*94+5947C>T	ENSP00000495041.1:n.*94+5947C>T
ENST00000643042.1:c.631C>T	ENSP00000496674.1:n.631C>T
ENST00000643619.1:c.*593C>T	ENSP00000494378.1:n.*593C>T
ENST00000643752.1:c.*336C>T	ENSP00000495000.1:n.*336C>T
ENST00000644088.1:c.*331C>T	ENSP00000494066.1:n.*331C>T
ENST00000644591.1:c.*336C>T	ENSP00000496664.1:n.*336C>T
ENST00000644895.1:c.*99+5947C>T	ENSP00000493872.1:n.*99+5947C>T
ENST00000645345.1:c.*582C>T	ENSP00000495859.1:n.*582C>T
ENST00000647524.1:c.*593C>T	ENSP00000495077.1:n.*593C>T
ENST00000373189.5:c.1010C>T	ENSP00000362285.5:p.Ser337Leu
ENST00000469204.1:n.507C>T
NM_001174098.1:c.*239C>T	NP_001167569.1:n.*239C>T
NM_018344.5:c.1010C>T	NP_060814.4:p.Ser337Leu
NR_033413.1:n.984C>T
NR_033414.1:n.757C>T
XM_006717910.2:c.776C>T	XP_006717973.1:p.Ser259Leu
NM_001363518.1:c.776C>T	NP_001350447.1:p.Ser259Leu
XM_017016377.2:c.572C>T	XP_016871866.1:p.Ser191Leu
XM_017016378.2:c.392C>T	XP_016871867.1:p.Ser131Leu
NM_018344.6:c.1010C>T MANE Select	NP_060814.4:p.Ser337Leu
NM_001174098.2:c.*239C>T	NP_001167569.1:n.*239C>T
NM_001363518.2:c.776C>T	NP_001350447.1:p.Ser259Leu
NR_033413.2:n.978C>T
NR_033414.2:n.751C>T