Canonical Allele Identifier: CA377114200
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362030C>G , CM000672.2:g.71362030C>G GRCh38
NC_000010.10:g.73121787C>G , CM000672.1:g.73121787C>G GRCh37
NC_000010.9:g.72791793C>G NCBI36
NG_017066.1:g.47778C>G
NG_017066.2:g.47772C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2326C>G
ENST00000373189.6:c.850C>G MANE Select ENSP00000362285.5:p.Pro284Ala
ENST00000479577.2:c.616C>G ENSP00000493995.1:p.Pro206Ala
ENST00000642198.1:c.*422C>G ENSP00000494827.1:n.*422C>G
ENST00000642772.1:c.*94+5787C>G ENSP00000495041.1:n.*94+5787C>G
ENST00000643042.1:c.471C>G ENSP00000496674.1:n.471C>G
ENST00000643619.1:c.*433C>G ENSP00000494378.1:n.*433C>G
ENST00000643752.1:c.*176C>G ENSP00000495000.1:n.*176C>G
ENST00000644088.1:c.*171C>G ENSP00000494066.1:n.*171C>G
ENST00000644591.1:c.*176C>G ENSP00000496664.1:n.*176C>G
ENST00000644895.1:c.*99+5787C>G ENSP00000493872.1:n.*99+5787C>G
ENST00000645345.1:c.*422C>G ENSP00000495859.1:n.*422C>G
ENST00000647524.1:c.*433C>G ENSP00000495077.1:n.*433C>G
ENST00000373189.5:c.850C>G ENSP00000362285.5:p.Pro284Ala
ENST00000469204.1:n.347C>G
NM_001174098.1:c.*79C>G NP_001167569.1:n.*79C>G
NM_018344.5:c.850C>G NP_060814.4:p.Pro284Ala
NR_033413.1:n.824C>G
NR_033414.1:n.597C>G
XM_006717910.2:c.616C>G XP_006717973.1:p.Pro206Ala
NM_001363518.1:c.616C>G NP_001350447.1:p.Pro206Ala
XM_017016377.2:c.412C>G XP_016871866.1:p.Pro138Ala
XM_017016378.2:c.232C>G XP_016871867.1:p.Pro78Ala
NM_018344.6:c.850C>G MANE Select NP_060814.4:p.Pro284Ala
NM_001174098.2:c.*79C>G NP_001167569.1:n.*79C>G
NM_001363518.2:c.616C>G NP_001350447.1:p.Pro206Ala
NR_033413.2:n.818C>G
NR_033414.2:n.591C>G