Canonical Allele Identifier: CA377113801
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71361968C>A , CM000672.2:g.71361968C>A GRCh38
NC_000010.10:g.73121725C>A , CM000672.1:g.73121725C>A GRCh37
NC_000010.9:g.72791731C>A NCBI36
NG_017066.1:g.47716C>A
NG_017066.2:g.47710C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2264C>A
ENST00000373189.6:c.788C>A MANE Select ENSP00000362285.5:p.Pro263His
ENST00000479577.2:c.554C>A ENSP00000493995.1:p.Pro185His
ENST00000642198.1:c.*360C>A ENSP00000494827.1:n.*360C>A
ENST00000642772.1:c.*94+5725C>A ENSP00000495041.1:n.*94+5725C>A
ENST00000643042.1:c.409C>A ENSP00000496674.1:n.409C>A
ENST00000643619.1:c.*371C>A ENSP00000494378.1:n.*371C>A
ENST00000643752.1:c.*114C>A ENSP00000495000.1:n.*114C>A
ENST00000644088.1:c.*109C>A ENSP00000494066.1:n.*109C>A
ENST00000644591.1:c.*114C>A ENSP00000496664.1:n.*114C>A
ENST00000644895.1:c.*99+5725C>A ENSP00000493872.1:n.*99+5725C>A
ENST00000645345.1:c.*360C>A ENSP00000495859.1:n.*360C>A
ENST00000647524.1:c.*371C>A ENSP00000495077.1:n.*371C>A
ENST00000373189.5:c.788C>A ENSP00000362285.5:p.Pro263His
ENST00000469204.1:n.285C>A
NM_001174098.1:c.*17C>A NP_001167569.1:n.*17C>A
NM_018344.5:c.788C>A NP_060814.4:p.Pro263His
NR_033413.1:n.762C>A
NR_033414.1:n.535C>A
XM_006717910.2:c.554C>A XP_006717973.1:p.Pro185His
NM_001363518.1:c.554C>A NP_001350447.1:p.Pro185His
XM_017016377.2:c.350C>A XP_016871866.1:p.Pro117His
XM_017016378.2:c.170C>A XP_016871867.1:p.Pro57His
NM_018344.6:c.788C>A MANE Select NP_060814.4:p.Pro263His
NM_001174098.2:c.*17C>A NP_001167569.1:n.*17C>A
NM_001363518.2:c.554C>A NP_001350447.1:p.Pro185His
NR_033413.2:n.756C>A
NR_033414.2:n.529C>A