Canonical Allele Identifier: CA397087925
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810118C>A , CM000678.2:g.88810118C>A GRCh38
NC_000016.9:g.88876526C>A , CM000678.1:g.88876526C>A GRCh37
NC_000016.8:g.87404027C>A NCBI36
NG_008013.1:g.6817G>T
NG_028266.1:g.11341C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.352G>T MANE Select ENSP00000367615.3:p.Glu118Ter
ENST00000378364.7:c.352G>T ENSP00000367615.3:p.Glu118Ter
ENST00000426324.6:c.352G>T ENSP00000397007.2:p.Glu118Ter
ENST00000562464.1:n.362G>T
ENST00000563655.5:c.271G>T ENSP00000456012.1:p.Glu91Ter
ENST00000567057.5:n.151G>T
ENST00000567391.5:c.*26G>T ENSP00000457964.1:n.*26G>T
ENST00000567713.5:c.321+305G>T ENSP00000455749.1:n.321+305G>T
ENST00000568319.5:c.*26G>T ENSP00000456905.1:n.*26G>T
ENST00000568575.1:n.281G>T
ENST00000569616.1:c.350G>T
NM_000485.2:c.352G>T NP_000476.1:p.Glu118Ter
NM_001030018.1:c.352G>T NP_001025189.1:p.Glu118Ter
NM_000485.3:c.352G>T MANE Select NP_000476.1:p.Glu118Ter
NM_001030018.2:c.352G>T NP_001025189.1:p.Glu118Ter