Canonical Allele Identifier: CA377117081
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362407C>A , CM000672.2:g.71362407C>A GRCh38
NC_000010.10:g.73122164C>A , CM000672.1:g.73122164C>A GRCh37
NC_000010.9:g.72792170C>A NCBI36
NG_017066.1:g.48155C>A
NG_017066.2:g.48149C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2703C>A
ENST00000373189.6:c.1227C>A MANE Select ENSP00000362285.5:p.Phe409Leu
ENST00000479577.2:c.993C>A ENSP00000493995.1:p.Phe331Leu
ENST00000642198.1:c.*799C>A ENSP00000494827.1:n.*799C>A
ENST00000642772.1:c.*94+6164C>A ENSP00000495041.1:n.*94+6164C>A
ENST00000643042.1:c.848C>A ENSP00000496674.1:n.848C>A
ENST00000643619.1:c.*810C>A ENSP00000494378.1:n.*810C>A
ENST00000643752.1:c.*553C>A ENSP00000495000.1:n.*553C>A
ENST00000644088.1:c.*548C>A ENSP00000494066.1:n.*548C>A
ENST00000644591.1:c.*553C>A ENSP00000496664.1:n.*553C>A
ENST00000644895.1:c.*99+6164C>A ENSP00000493872.1:n.*99+6164C>A
ENST00000645345.1:c.*799C>A ENSP00000495859.1:n.*799C>A
ENST00000647524.1:c.*810C>A ENSP00000495077.1:n.*810C>A
ENST00000373189.5:c.1227C>A ENSP00000362285.5:p.Phe409Leu
ENST00000469204.1:n.724C>A
NM_001174098.1:c.*456C>A NP_001167569.1:n.*456C>A
NM_018344.5:c.1227C>A NP_060814.4:p.Phe409Leu
NR_033413.1:n.1201C>A
NR_033414.1:n.974C>A
XM_006717910.2:c.993C>A XP_006717973.1:p.Phe331Leu
NM_001363518.1:c.993C>A NP_001350447.1:p.Phe331Leu
XM_017016377.2:c.789C>A XP_016871866.1:p.Phe263Leu
XM_017016378.2:c.609C>A XP_016871867.1:p.Phe203Leu
NM_018344.6:c.1227C>A MANE Select NP_060814.4:p.Phe409Leu
NM_001174098.2:c.*456C>A NP_001167569.1:n.*456C>A
NM_001363518.2:c.993C>A NP_001350447.1:p.Phe331Leu
NR_033413.2:n.1195C>A
NR_033414.2:n.968C>A