Canonical Allele Identifier: CA377114064
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362012C>G , CM000672.2:g.71362012C>G GRCh38
NC_000010.10:g.73121769C>G , CM000672.1:g.73121769C>G GRCh37
NC_000010.9:g.72791775C>G NCBI36
NG_017066.1:g.47760C>G
NG_017066.2:g.47754C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2308C>G
ENST00000373189.6:c.832C>G MANE Select ENSP00000362285.5:p.Gln278Glu
ENST00000479577.2:c.598C>G ENSP00000493995.1:p.Gln200Glu
ENST00000642198.1:c.*404C>G ENSP00000494827.1:n.*404C>G
ENST00000642772.1:c.*94+5769C>G ENSP00000495041.1:n.*94+5769C>G
ENST00000643042.1:c.453C>G ENSP00000496674.1:n.453C>G
ENST00000643619.1:c.*415C>G ENSP00000494378.1:n.*415C>G
ENST00000643752.1:c.*158C>G ENSP00000495000.1:n.*158C>G
ENST00000644088.1:c.*153C>G ENSP00000494066.1:n.*153C>G
ENST00000644591.1:c.*158C>G ENSP00000496664.1:n.*158C>G
ENST00000644895.1:c.*99+5769C>G ENSP00000493872.1:n.*99+5769C>G
ENST00000645345.1:c.*404C>G ENSP00000495859.1:n.*404C>G
ENST00000647524.1:c.*415C>G ENSP00000495077.1:n.*415C>G
ENST00000373189.5:c.832C>G ENSP00000362285.5:p.Gln278Glu
ENST00000469204.1:n.329C>G
NM_001174098.1:c.*61C>G NP_001167569.1:n.*61C>G
NM_018344.5:c.832C>G NP_060814.4:p.Gln278Glu
NR_033413.1:n.806C>G
NR_033414.1:n.579C>G
XM_006717910.2:c.598C>G XP_006717973.1:p.Gln200Glu
NM_001363518.1:c.598C>G NP_001350447.1:p.Gln200Glu
XM_017016377.2:c.394C>G XP_016871866.1:p.Gln132Glu
XM_017016378.2:c.214C>G XP_016871867.1:p.Gln72Glu
NM_018344.6:c.832C>G MANE Select NP_060814.4:p.Gln278Glu
NM_001174098.2:c.*61C>G NP_001167569.1:n.*61C>G
NM_001363518.2:c.598C>G NP_001350447.1:p.Gln200Glu
NR_033413.2:n.800C>G
NR_033414.2:n.573C>G