Canonical Allele Identifier: CA377115093
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362132A>T , CM000672.2:g.71362132A>T GRCh38
NC_000010.10:g.73121889A>T , CM000672.1:g.73121889A>T GRCh37
NC_000010.9:g.72791895A>T NCBI36
NG_017066.1:g.47880A>T
NG_017066.2:g.47874A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2428A>T
ENST00000373189.6:c.952A>T MANE Select ENSP00000362285.5:p.Ile318Phe
ENST00000479577.2:c.718A>T ENSP00000493995.1:p.Ile240Phe
ENST00000642198.1:c.*524A>T ENSP00000494827.1:n.*524A>T
ENST00000642772.1:c.*94+5889A>T ENSP00000495041.1:n.*94+5889A>T
ENST00000643042.1:c.573A>T ENSP00000496674.1:n.573A>T
ENST00000643619.1:c.*535A>T ENSP00000494378.1:n.*535A>T
ENST00000643752.1:c.*278A>T ENSP00000495000.1:n.*278A>T
ENST00000644088.1:c.*273A>T ENSP00000494066.1:n.*273A>T
ENST00000644591.1:c.*278A>T ENSP00000496664.1:n.*278A>T
ENST00000644895.1:c.*99+5889A>T ENSP00000493872.1:n.*99+5889A>T
ENST00000645345.1:c.*524A>T ENSP00000495859.1:n.*524A>T
ENST00000647524.1:c.*535A>T ENSP00000495077.1:n.*535A>T
ENST00000373189.5:c.952A>T ENSP00000362285.5:p.Ile318Phe
ENST00000469204.1:n.449A>T
NM_001174098.1:c.*181A>T NP_001167569.1:n.*181A>T
NM_018344.5:c.952A>T NP_060814.4:p.Ile318Phe
NR_033413.1:n.926A>T
NR_033414.1:n.699A>T
XM_006717910.2:c.718A>T XP_006717973.1:p.Ile240Phe
NM_001363518.1:c.718A>T NP_001350447.1:p.Ile240Phe
XM_017016377.2:c.514A>T XP_016871866.1:p.Ile172Phe
XM_017016378.2:c.334A>T XP_016871867.1:p.Ile112Phe
NM_018344.6:c.952A>T MANE Select NP_060814.4:p.Ile318Phe
NM_001174098.2:c.*181A>T NP_001167569.1:n.*181A>T
NM_001363518.2:c.718A>T NP_001350447.1:p.Ile240Phe
NR_033413.2:n.920A>T
NR_033414.2:n.693A>T