Canonical Allele Identifier: CA377117082
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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