Canonical Allele Identifier: CA209388461

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1015509600
• gnomAD v2: 10-73122533-C-A
• gnomAD v4: 10-71362776-C-A
• MyVariant Identifiers: chr10:g.73122533C>A (hg19) ; chr10:g.71362776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362776C>A , CM000672.2:g.71362776C>A	GRCh38
NC_000010.10:g.73122533C>A , CM000672.1:g.73122533C>A	GRCh37
NC_000010.9:g.72792539C>A	NCBI36
NG_017066.1:g.48524C>A
NG_017066.2:g.48518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3072C>A
ENST00000373189.6:c.*168C>A MANE Select	ENSP00000362285.5:n.*168C>A
ENST00000479577.2:c.*168C>A	ENSP00000493995.1:n.*168C>A
ENST00000642198.1:c.*1168C>A	ENSP00000494827.1:n.*1168C>A
ENST00000642772.1:c.*94+6533C>A	ENSP00000495041.1:n.*94+6533C>A
ENST00000643042.1:c.1217C>A	ENSP00000496674.1:n.1217C>A
ENST00000643619.1:c.*1179C>A	ENSP00000494378.1:n.*1179C>A
ENST00000643752.1:c.*922C>A	ENSP00000495000.1:n.*922C>A
ENST00000644088.1:c.*917C>A	ENSP00000494066.1:n.*917C>A
ENST00000644591.1:c.*922C>A	ENSP00000496664.1:n.*922C>A
ENST00000644895.1:c.*99+6533C>A	ENSP00000493872.1:n.*99+6533C>A
ENST00000645345.1:c.*1168C>A	ENSP00000495859.1:n.*1168C>A
ENST00000647524.1:c.*1179C>A	ENSP00000495077.1:n.*1179C>A
ENST00000373189.5:c.*168C>A	ENSP00000362285.5:n.*168C>A
NM_001174098.1:c.*825C>A	NP_001167569.1:n.*825C>A
NM_018344.5:c.*168C>A	NP_060814.4:n.*168C>A
NR_033413.1:n.1570C>A
NR_033414.1:n.1343C>A
XM_006717910.2:c.*168C>A	XP_006717973.1:n.*168C>A
NM_001363518.1:c.*168C>A	NP_001350447.1:n.*168C>A
XM_017016377.2:c.*168C>A	XP_016871866.1:n.*168C>A
XM_017016378.2:c.*168C>A	XP_016871867.1:n.*168C>A
NM_018344.6:c.*168C>A MANE Select	NP_060814.4:n.*168C>A
NM_001174098.2:c.*825C>A	NP_001167569.1:n.*825C>A
NM_001363518.2:c.*168C>A	NP_001350447.1:n.*168C>A
NR_033413.2:n.1564C>A
NR_033414.2:n.1337C>A