Canonical Allele Identifier: CA377117452

Gene: SLC29A3

Linked Data

• COSMIC: COSM5621838
• MyVariant Identifiers: chr10:g.73122280C>T (hg19) ; chr10:g.71362523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362523C>T , CM000672.2:g.71362523C>T	GRCh38
NC_000010.10:g.73122280C>T , CM000672.1:g.73122280C>T	GRCh37
NC_000010.9:g.72792286C>T	NCBI36
NG_017066.1:g.48271C>T
NG_017066.2:g.48265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2819C>T
ENST00000373189.6:c.1343C>T MANE Select	ENSP00000362285.5:p.Ala448Val
ENST00000479577.2:c.1109C>T	ENSP00000493995.1:p.Ala370Val
ENST00000642198.1:c.*915C>T	ENSP00000494827.1:n.*915C>T
ENST00000642772.1:c.*94+6280C>T	ENSP00000495041.1:n.*94+6280C>T
ENST00000643042.1:c.964C>T	ENSP00000496674.1:n.964C>T
ENST00000643619.1:c.*926C>T	ENSP00000494378.1:n.*926C>T
ENST00000643752.1:c.*669C>T	ENSP00000495000.1:n.*669C>T
ENST00000644088.1:c.*664C>T	ENSP00000494066.1:n.*664C>T
ENST00000644591.1:c.*669C>T	ENSP00000496664.1:n.*669C>T
ENST00000644895.1:c.*99+6280C>T	ENSP00000493872.1:n.*99+6280C>T
ENST00000645345.1:c.*915C>T	ENSP00000495859.1:n.*915C>T
ENST00000647524.1:c.*926C>T	ENSP00000495077.1:n.*926C>T
ENST00000373189.5:c.1343C>T	ENSP00000362285.5:p.Ala448Val
NM_001174098.1:c.*572C>T	NP_001167569.1:n.*572C>T
NM_018344.5:c.1343C>T	NP_060814.4:p.Ala448Val
NR_033413.1:n.1317C>T
NR_033414.1:n.1090C>T
XM_006717910.2:c.1109C>T	XP_006717973.1:p.Ala370Val
NM_001363518.1:c.1109C>T	NP_001350447.1:p.Ala370Val
XM_017016377.2:c.905C>T	XP_016871866.1:p.Ala302Val
XM_017016378.2:c.725C>T	XP_016871867.1:p.Ala242Val
NM_018344.6:c.1343C>T MANE Select	NP_060814.4:p.Ala448Val
NM_001174098.2:c.*572C>T	NP_001167569.1:n.*572C>T
NM_001363518.2:c.1109C>T	NP_001350447.1:p.Ala370Val
NR_033413.2:n.1311C>T
NR_033414.2:n.1084C>T