Canonical Allele Identifier: CA377116857
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362310A>T , CM000672.2:g.71362310A>T GRCh38
NC_000010.10:g.73122067A>T , CM000672.1:g.73122067A>T GRCh37
NC_000010.9:g.72792073A>T NCBI36
NG_017066.1:g.48058A>T
NG_017066.2:g.48052A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2606A>T
ENST00000373189.6:c.1130A>T MANE Select ENSP00000362285.5:p.Lys377Met
ENST00000479577.2:c.896A>T ENSP00000493995.1:p.Lys299Met
ENST00000642198.1:c.*702A>T ENSP00000494827.1:n.*702A>T
ENST00000642772.1:c.*94+6067A>T ENSP00000495041.1:n.*94+6067A>T
ENST00000643042.1:c.751A>T ENSP00000496674.1:n.751A>T
ENST00000643619.1:c.*713A>T ENSP00000494378.1:n.*713A>T
ENST00000643752.1:c.*456A>T ENSP00000495000.1:n.*456A>T
ENST00000644088.1:c.*451A>T ENSP00000494066.1:n.*451A>T
ENST00000644591.1:c.*456A>T ENSP00000496664.1:n.*456A>T
ENST00000644895.1:c.*99+6067A>T ENSP00000493872.1:n.*99+6067A>T
ENST00000645345.1:c.*702A>T ENSP00000495859.1:n.*702A>T
ENST00000647524.1:c.*713A>T ENSP00000495077.1:n.*713A>T
ENST00000373189.5:c.1130A>T ENSP00000362285.5:p.Lys377Met
ENST00000469204.1:n.627A>T
NM_001174098.1:c.*359A>T NP_001167569.1:n.*359A>T
NM_018344.5:c.1130A>T NP_060814.4:p.Lys377Met
NR_033413.1:n.1104A>T
NR_033414.1:n.877A>T
XM_006717910.2:c.896A>T XP_006717973.1:p.Lys299Met
NM_001363518.1:c.896A>T NP_001350447.1:p.Lys299Met
XM_017016377.2:c.692A>T XP_016871866.1:p.Lys231Met
XM_017016378.2:c.512A>T XP_016871867.1:p.Lys171Met
NM_018344.6:c.1130A>T MANE Select NP_060814.4:p.Lys377Met
NM_001174098.2:c.*359A>T NP_001167569.1:n.*359A>T
NM_001363518.2:c.896A>T NP_001350447.1:p.Lys299Met
NR_033413.2:n.1098A>T
NR_033414.2:n.871A>T