Canonical Allele Identifier: CA377117040

Gene: SLC29A3

Linked Data

• COSMIC: COSM920093
• MyVariant Identifiers: chr10:g.73122144C>T (hg19) ; chr10:g.71362387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362387C>T , CM000672.2:g.71362387C>T	GRCh38
NC_000010.10:g.73122144C>T , CM000672.1:g.73122144C>T	GRCh37
NC_000010.9:g.72792150C>T	NCBI36
NG_017066.1:g.48135C>T
NG_017066.2:g.48129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2683C>T
ENST00000373189.6:c.1207C>T MANE Select	ENSP00000362285.5:p.His403Tyr
ENST00000479577.2:c.973C>T	ENSP00000493995.1:p.His325Tyr
ENST00000642198.1:c.*779C>T	ENSP00000494827.1:n.*779C>T
ENST00000642772.1:c.*94+6144C>T	ENSP00000495041.1:n.*94+6144C>T
ENST00000643042.1:c.828C>T	ENSP00000496674.1:n.828C>T
ENST00000643619.1:c.*790C>T	ENSP00000494378.1:n.*790C>T
ENST00000643752.1:c.*533C>T	ENSP00000495000.1:n.*533C>T
ENST00000644088.1:c.*528C>T	ENSP00000494066.1:n.*528C>T
ENST00000644591.1:c.*533C>T	ENSP00000496664.1:n.*533C>T
ENST00000644895.1:c.*99+6144C>T	ENSP00000493872.1:n.*99+6144C>T
ENST00000645345.1:c.*779C>T	ENSP00000495859.1:n.*779C>T
ENST00000647524.1:c.*790C>T	ENSP00000495077.1:n.*790C>T
ENST00000373189.5:c.1207C>T	ENSP00000362285.5:p.His403Tyr
ENST00000469204.1:n.704C>T
NM_001174098.1:c.*436C>T	NP_001167569.1:n.*436C>T
NM_018344.5:c.1207C>T	NP_060814.4:p.His403Tyr
NR_033413.1:n.1181C>T
NR_033414.1:n.954C>T
XM_006717910.2:c.973C>T	XP_006717973.1:p.His325Tyr
NM_001363518.1:c.973C>T	NP_001350447.1:p.His325Tyr
XM_017016377.2:c.769C>T	XP_016871866.1:p.His257Tyr
XM_017016378.2:c.589C>T	XP_016871867.1:p.His197Tyr
NM_018344.6:c.1207C>T MANE Select	NP_060814.4:p.His403Tyr
NM_001174098.2:c.*436C>T	NP_001167569.1:n.*436C>T
NM_001363518.2:c.973C>T	NP_001350447.1:p.His325Tyr
NR_033413.2:n.1175C>T
NR_033414.2:n.948C>T