Canonical Allele Identifier: CA5543222

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 300374
• ClinVar RCV Id: RCV000308913
• dbSNP Id: rs117406077
• ExAC: 10:73122489 C / T
• gnomAD v2: 10-73122489-C-T
• gnomAD v3: 10-71362732-C-T
• gnomAD v4: 10-71362732-C-T
• MyVariant Identifiers: chr10:g.73122489C>T (hg19) ; chr10:g.71362732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362732C>T , CM000672.2:g.71362732C>T	GRCh38
NC_000010.10:g.73122489C>T , CM000672.1:g.73122489C>T	GRCh37
NC_000010.9:g.72792495C>T	NCBI36
NG_017066.1:g.48480C>T
NG_017066.2:g.48474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3028C>T
ENST00000373189.6:c.*124C>T MANE Select	ENSP00000362285.5:n.*124C>T
ENST00000479577.2:c.*124C>T	ENSP00000493995.1:n.*124C>T
ENST00000642198.1:c.*1124C>T	ENSP00000494827.1:n.*1124C>T
ENST00000642772.1:c.*94+6489C>T	ENSP00000495041.1:n.*94+6489C>T
ENST00000643042.1:c.1173C>T	ENSP00000496674.1:n.1173C>T
ENST00000643619.1:c.*1135C>T	ENSP00000494378.1:n.*1135C>T
ENST00000643752.1:c.*878C>T	ENSP00000495000.1:n.*878C>T
ENST00000644088.1:c.*873C>T	ENSP00000494066.1:n.*873C>T
ENST00000644591.1:c.*878C>T	ENSP00000496664.1:n.*878C>T
ENST00000644895.1:c.*99+6489C>T	ENSP00000493872.1:n.*99+6489C>T
ENST00000645345.1:c.*1124C>T	ENSP00000495859.1:n.*1124C>T
ENST00000647524.1:c.*1135C>T	ENSP00000495077.1:n.*1135C>T
ENST00000373189.5:c.*124C>T	ENSP00000362285.5:n.*124C>T
NM_001174098.1:c.*781C>T	NP_001167569.1:n.*781C>T
NM_018344.5:c.*124C>T	NP_060814.4:n.*124C>T
NR_033413.1:n.1526C>T
NR_033414.1:n.1299C>T
XM_006717910.2:c.*124C>T	XP_006717973.1:n.*124C>T
NM_001363518.1:c.*124C>T	NP_001350447.1:n.*124C>T
XM_017016377.2:c.*124C>T	XP_016871866.1:n.*124C>T
XM_017016378.2:c.*124C>T	XP_016871867.1:n.*124C>T
NM_018344.6:c.*124C>T MANE Select	NP_060814.4:n.*124C>T
NM_001174098.2:c.*781C>T	NP_001167569.1:n.*781C>T
NM_001363518.2:c.*124C>T	NP_001350447.1:n.*124C>T
NR_033413.2:n.1520C>T
NR_033414.2:n.1293C>T