Canonical Allele Identifier: CA377114095
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362015G>T , CM000672.2:g.71362015G>T GRCh38
NC_000010.10:g.73121772G>T , CM000672.1:g.73121772G>T GRCh37
NC_000010.9:g.72791778G>T NCBI36
NG_017066.1:g.47763G>T
NG_017066.2:g.47757G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2311G>T
ENST00000373189.6:c.835G>T MANE Select ENSP00000362285.5:p.Asp279Tyr
ENST00000479577.2:c.601G>T ENSP00000493995.1:p.Asp201Tyr
ENST00000642198.1:c.*407G>T ENSP00000494827.1:n.*407G>T
ENST00000642772.1:c.*94+5772G>T ENSP00000495041.1:n.*94+5772G>T
ENST00000643042.1:c.456G>T ENSP00000496674.1:n.456G>T
ENST00000643619.1:c.*418G>T ENSP00000494378.1:n.*418G>T
ENST00000643752.1:c.*161G>T ENSP00000495000.1:n.*161G>T
ENST00000644088.1:c.*156G>T ENSP00000494066.1:n.*156G>T
ENST00000644591.1:c.*161G>T ENSP00000496664.1:n.*161G>T
ENST00000644895.1:c.*99+5772G>T ENSP00000493872.1:n.*99+5772G>T
ENST00000645345.1:c.*407G>T ENSP00000495859.1:n.*407G>T
ENST00000647524.1:c.*418G>T ENSP00000495077.1:n.*418G>T
ENST00000373189.5:c.835G>T ENSP00000362285.5:p.Asp279Tyr
ENST00000469204.1:n.332G>T
NM_001174098.1:c.*64G>T NP_001167569.1:n.*64G>T
NM_018344.5:c.835G>T NP_060814.4:p.Asp279Tyr
NR_033413.1:n.809G>T
NR_033414.1:n.582G>T
XM_006717910.2:c.601G>T XP_006717973.1:p.Asp201Tyr
NM_001363518.1:c.601G>T NP_001350447.1:p.Asp201Tyr
XM_017016377.2:c.397G>T XP_016871866.1:p.Asp133Tyr
XM_017016378.2:c.217G>T XP_016871867.1:p.Asp73Tyr
NM_018344.6:c.835G>T MANE Select NP_060814.4:p.Asp279Tyr
NM_001174098.2:c.*64G>T NP_001167569.1:n.*64G>T
NM_001363518.2:c.601G>T NP_001350447.1:p.Asp201Tyr
NR_033413.2:n.803G>T
NR_033414.2:n.576G>T