Canonical Allele Identifier: CA377117272
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362498A>T , CM000672.2:g.71362498A>T GRCh38
NC_000010.10:g.73122255A>T , CM000672.1:g.73122255A>T GRCh37
NC_000010.9:g.72792261A>T NCBI36
NG_017066.1:g.48246A>T
NG_017066.2:g.48240A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697843.1:n.2794A>T
ENST00000373189.6:c.1318A>T MANE Select ENSP00000362285.5:p.Ile440Phe
ENST00000479577.2:c.1084A>T ENSP00000493995.1:p.Ile362Phe
ENST00000642198.1:c.*890A>T ENSP00000494827.1:n.*890A>T
ENST00000642772.1:c.*94+6255A>T ENSP00000495041.1:n.*94+6255A>T
ENST00000643042.1:c.939A>T ENSP00000496674.1:n.939A>T
ENST00000643619.1:c.*901A>T ENSP00000494378.1:n.*901A>T
ENST00000643752.1:c.*644A>T ENSP00000495000.1:n.*644A>T
ENST00000644088.1:c.*639A>T ENSP00000494066.1:n.*639A>T
ENST00000644591.1:c.*644A>T ENSP00000496664.1:n.*644A>T
ENST00000644895.1:c.*99+6255A>T ENSP00000493872.1:n.*99+6255A>T
ENST00000645345.1:c.*890A>T ENSP00000495859.1:n.*890A>T
ENST00000647524.1:c.*901A>T ENSP00000495077.1:n.*901A>T
ENST00000373189.5:c.1318A>T ENSP00000362285.5:p.Ile440Phe
ENST00000469204.1:n.815A>T
NM_001174098.1:c.*547A>T NP_001167569.1:n.*547A>T
NM_018344.5:c.1318A>T NP_060814.4:p.Ile440Phe
NR_033413.1:n.1292A>T
NR_033414.1:n.1065A>T
XM_006717910.2:c.1084A>T XP_006717973.1:p.Ile362Phe
NM_001363518.1:c.1084A>T NP_001350447.1:p.Ile362Phe
XM_017016377.2:c.880A>T XP_016871866.1:p.Ile294Phe
XM_017016378.2:c.700A>T XP_016871867.1:p.Ile234Phe
NM_018344.6:c.1318A>T MANE Select NP_060814.4:p.Ile440Phe
NM_001174098.2:c.*547A>T NP_001167569.1:n.*547A>T
NM_001363518.2:c.1084A>T NP_001350447.1:p.Ile362Phe
NR_033413.2:n.1286A>T
NR_033414.2:n.1059A>T