Canonical Allele Identifier: CA377114995
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362117A>G , CM000672.2:g.71362117A>G GRCh38
NC_000010.10:g.73121874A>G , CM000672.1:g.73121874A>G GRCh37
NC_000010.9:g.72791880A>G NCBI36
NG_017066.1:g.47865A>G
NG_017066.2:g.47859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2413A>G
ENST00000373189.6:c.937A>G MANE Select ENSP00000362285.5:p.Thr313Ala
ENST00000479577.2:c.703A>G ENSP00000493995.1:p.Thr235Ala
ENST00000642198.1:c.*509A>G ENSP00000494827.1:n.*509A>G
ENST00000642772.1:c.*94+5874A>G ENSP00000495041.1:n.*94+5874A>G
ENST00000643042.1:c.558A>G ENSP00000496674.1:n.558A>G
ENST00000643619.1:c.*520A>G ENSP00000494378.1:n.*520A>G
ENST00000643752.1:c.*263A>G ENSP00000495000.1:n.*263A>G
ENST00000644088.1:c.*258A>G ENSP00000494066.1:n.*258A>G
ENST00000644591.1:c.*263A>G ENSP00000496664.1:n.*263A>G
ENST00000644895.1:c.*99+5874A>G ENSP00000493872.1:n.*99+5874A>G
ENST00000645345.1:c.*509A>G ENSP00000495859.1:n.*509A>G
ENST00000647524.1:c.*520A>G ENSP00000495077.1:n.*520A>G
ENST00000373189.5:c.937A>G ENSP00000362285.5:p.Thr313Ala
ENST00000469204.1:n.434A>G
NM_001174098.1:c.*166A>G NP_001167569.1:n.*166A>G
NM_018344.5:c.937A>G NP_060814.4:p.Thr313Ala
NR_033413.1:n.911A>G
NR_033414.1:n.684A>G
XM_006717910.2:c.703A>G XP_006717973.1:p.Thr235Ala
NM_001363518.1:c.703A>G NP_001350447.1:p.Thr235Ala
XM_017016377.2:c.499A>G XP_016871866.1:p.Thr167Ala
XM_017016378.2:c.319A>G XP_016871867.1:p.Thr107Ala
NM_018344.6:c.937A>G MANE Select NP_060814.4:p.Thr313Ala
NM_001174098.2:c.*166A>G NP_001167569.1:n.*166A>G
NM_001363518.2:c.703A>G NP_001350447.1:p.Thr235Ala
NR_033413.2:n.905A>G
NR_033414.2:n.678A>G