Canonical Allele Identifier: CA377113957

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847067090
• MyVariant Identifiers: chr10:g.73121754G>T (hg19) ; chr10:g.71361997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361997G>T , CM000672.2:g.71361997G>T	GRCh38
NC_000010.10:g.73121754G>T , CM000672.1:g.73121754G>T	GRCh37
NC_000010.9:g.72791760G>T	NCBI36
NG_017066.1:g.47745G>T
NG_017066.2:g.47739G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2293G>T
ENST00000373189.6:c.817G>T MANE Select	ENSP00000362285.5:p.Glu273Ter
ENST00000479577.2:c.583G>T	ENSP00000493995.1:p.Glu195Ter
ENST00000642198.1:c.*389G>T	ENSP00000494827.1:n.*389G>T
ENST00000642772.1:c.*94+5754G>T	ENSP00000495041.1:n.*94+5754G>T
ENST00000643042.1:c.438G>T	ENSP00000496674.1:n.438G>T
ENST00000643619.1:c.*400G>T	ENSP00000494378.1:n.*400G>T
ENST00000643752.1:c.*143G>T	ENSP00000495000.1:n.*143G>T
ENST00000644088.1:c.*138G>T	ENSP00000494066.1:n.*138G>T
ENST00000644591.1:c.*143G>T	ENSP00000496664.1:n.*143G>T
ENST00000644895.1:c.*99+5754G>T	ENSP00000493872.1:n.*99+5754G>T
ENST00000645345.1:c.*389G>T	ENSP00000495859.1:n.*389G>T
ENST00000647524.1:c.*400G>T	ENSP00000495077.1:n.*400G>T
ENST00000373189.5:c.817G>T	ENSP00000362285.5:p.Glu273Ter
ENST00000469204.1:n.314G>T
NM_001174098.1:c.*46G>T	NP_001167569.1:n.*46G>T
NM_018344.5:c.817G>T	NP_060814.4:p.Glu273Ter
NR_033413.1:n.791G>T
NR_033414.1:n.564G>T
XM_006717910.2:c.583G>T	XP_006717973.1:p.Glu195Ter
NM_001363518.1:c.583G>T	NP_001350447.1:p.Glu195Ter
XM_017016377.2:c.379G>T	XP_016871866.1:p.Glu127Ter
XM_017016378.2:c.199G>T	XP_016871867.1:p.Glu67Ter
NM_018344.6:c.817G>T MANE Select	NP_060814.4:p.Glu273Ter
NM_001174098.2:c.*46G>T	NP_001167569.1:n.*46G>T
NM_001363518.2:c.583G>T	NP_001350447.1:p.Glu195Ter
NR_033413.2:n.785G>T
NR_033414.2:n.558G>T