Canonical Allele Identifier: CA377116810
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362307G>T , CM000672.2:g.71362307G>T GRCh38
NC_000010.10:g.73122064G>T , CM000672.1:g.73122064G>T GRCh37
NC_000010.9:g.72792070G>T NCBI36
NG_017066.1:g.48055G>T
NG_017066.2:g.48049G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2603G>T
ENST00000373189.6:c.1127G>T MANE Select ENSP00000362285.5:p.Ser376Ile
ENST00000479577.2:c.893G>T ENSP00000493995.1:p.Ser298Ile
ENST00000642198.1:c.*699G>T ENSP00000494827.1:n.*699G>T
ENST00000642772.1:c.*94+6064G>T ENSP00000495041.1:n.*94+6064G>T
ENST00000643042.1:c.748G>T ENSP00000496674.1:n.748G>T
ENST00000643619.1:c.*710G>T ENSP00000494378.1:n.*710G>T
ENST00000643752.1:c.*453G>T ENSP00000495000.1:n.*453G>T
ENST00000644088.1:c.*448G>T ENSP00000494066.1:n.*448G>T
ENST00000644591.1:c.*453G>T ENSP00000496664.1:n.*453G>T
ENST00000644895.1:c.*99+6064G>T ENSP00000493872.1:n.*99+6064G>T
ENST00000645345.1:c.*699G>T ENSP00000495859.1:n.*699G>T
ENST00000647524.1:c.*710G>T ENSP00000495077.1:n.*710G>T
ENST00000373189.5:c.1127G>T ENSP00000362285.5:p.Ser376Ile
ENST00000469204.1:n.624G>T
NM_001174098.1:c.*356G>T NP_001167569.1:n.*356G>T
NM_018344.5:c.1127G>T NP_060814.4:p.Ser376Ile
NR_033413.1:n.1101G>T
NR_033414.1:n.874G>T
XM_006717910.2:c.893G>T XP_006717973.1:p.Ser298Ile
NM_001363518.1:c.893G>T NP_001350447.1:p.Ser298Ile
XM_017016377.2:c.689G>T XP_016871866.1:p.Ser230Ile
XM_017016378.2:c.509G>T XP_016871867.1:p.Ser170Ile
NM_018344.6:c.1127G>T MANE Select NP_060814.4:p.Ser376Ile
NM_001174098.2:c.*356G>T NP_001167569.1:n.*356G>T
NM_001363518.2:c.893G>T NP_001350447.1:p.Ser298Ile
NR_033413.2:n.1095G>T
NR_033414.2:n.868G>T