Canonical Allele Identifier: CA377118057

Gene: SLC29A3

Linked Data

• COSMIC: COSM5660228
• MyVariant Identifiers: chr10:g.73122360A>T (hg19) ; chr10:g.71362603A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362603A>T , CM000672.2:g.71362603A>T	GRCh38
NC_000010.10:g.73122360A>T , CM000672.1:g.73122360A>T	GRCh37
NC_000010.9:g.72792366A>T	NCBI36
NG_017066.1:g.48351A>T
NG_017066.2:g.48345A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2899A>T
ENST00000373189.6:c.1423A>T MANE Select	ENSP00000362285.5:p.Ile475Phe
ENST00000479577.2:c.1189A>T	ENSP00000493995.1:p.Ile397Phe
ENST00000642198.1:c.*995A>T	ENSP00000494827.1:n.*995A>T
ENST00000642772.1:c.*94+6360A>T	ENSP00000495041.1:n.*94+6360A>T
ENST00000643042.1:c.1044A>T	ENSP00000496674.1:n.1044A>T
ENST00000643619.1:c.*1006A>T	ENSP00000494378.1:n.*1006A>T
ENST00000643752.1:c.*749A>T	ENSP00000495000.1:n.*749A>T
ENST00000644088.1:c.*744A>T	ENSP00000494066.1:n.*744A>T
ENST00000644591.1:c.*749A>T	ENSP00000496664.1:n.*749A>T
ENST00000644895.1:c.*99+6360A>T	ENSP00000493872.1:n.*99+6360A>T
ENST00000645345.1:c.*995A>T	ENSP00000495859.1:n.*995A>T
ENST00000647524.1:c.*1006A>T	ENSP00000495077.1:n.*1006A>T
ENST00000373189.5:c.1423A>T	ENSP00000362285.5:p.Ile475Phe
NM_001174098.1:c.*652A>T	NP_001167569.1:n.*652A>T
NM_018344.5:c.1423A>T	NP_060814.4:p.Ile475Phe
NR_033413.1:n.1397A>T
NR_033414.1:n.1170A>T
XM_006717910.2:c.1189A>T	XP_006717973.1:p.Ile397Phe
NM_001363518.1:c.1189A>T	NP_001350447.1:p.Ile397Phe
XM_017016377.2:c.985A>T	XP_016871866.1:p.Ile329Phe
XM_017016378.2:c.805A>T	XP_016871867.1:p.Ile269Phe
NM_018344.6:c.1423A>T MANE Select	NP_060814.4:p.Ile475Phe
NM_001174098.2:c.*652A>T	NP_001167569.1:n.*652A>T
NM_001363518.2:c.1189A>T	NP_001350447.1:p.Ile397Phe
NR_033413.2:n.1391A>T
NR_033414.2:n.1164A>T