Canonical Allele Identifier: CA377114048
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362009C>G , CM000672.2:g.71362009C>G GRCh38
NC_000010.10:g.73121766C>G , CM000672.1:g.73121766C>G GRCh37
NC_000010.9:g.72791772C>G NCBI36
NG_017066.1:g.47757C>G
NG_017066.2:g.47751C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2305C>G
ENST00000373189.6:c.829C>G MANE Select ENSP00000362285.5:p.Pro277Ala
ENST00000479577.2:c.595C>G ENSP00000493995.1:p.Pro199Ala
ENST00000642198.1:c.*401C>G ENSP00000494827.1:n.*401C>G
ENST00000642772.1:c.*94+5766C>G ENSP00000495041.1:n.*94+5766C>G
ENST00000643042.1:c.450C>G ENSP00000496674.1:n.450C>G
ENST00000643619.1:c.*412C>G ENSP00000494378.1:n.*412C>G
ENST00000643752.1:c.*155C>G ENSP00000495000.1:n.*155C>G
ENST00000644088.1:c.*150C>G ENSP00000494066.1:n.*150C>G
ENST00000644591.1:c.*155C>G ENSP00000496664.1:n.*155C>G
ENST00000644895.1:c.*99+5766C>G ENSP00000493872.1:n.*99+5766C>G
ENST00000645345.1:c.*401C>G ENSP00000495859.1:n.*401C>G
ENST00000647524.1:c.*412C>G ENSP00000495077.1:n.*412C>G
ENST00000373189.5:c.829C>G ENSP00000362285.5:p.Pro277Ala
ENST00000469204.1:n.326C>G
NM_001174098.1:c.*58C>G NP_001167569.1:n.*58C>G
NM_018344.5:c.829C>G NP_060814.4:p.Pro277Ala
NR_033413.1:n.803C>G
NR_033414.1:n.576C>G
XM_006717910.2:c.595C>G XP_006717973.1:p.Pro199Ala
NM_001363518.1:c.595C>G NP_001350447.1:p.Pro199Ala
XM_017016377.2:c.391C>G XP_016871866.1:p.Pro131Ala
XM_017016378.2:c.211C>G XP_016871867.1:p.Pro71Ala
NM_018344.6:c.829C>G MANE Select NP_060814.4:p.Pro277Ala
NM_001174098.2:c.*58C>G NP_001167569.1:n.*58C>G
NM_001363518.2:c.595C>G NP_001350447.1:p.Pro199Ala
NR_033413.2:n.797C>G
NR_033414.2:n.570C>G