Canonical Allele Identifier: CA2241308146
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810136T= , CM000678.2:g.88810136T= GRCh38
NC_000016.9:g.88876544T= , CM000678.1:g.88876544T= GRCh37
NC_000016.8:g.87404045T= NCBI36
NG_008013.1:g.6799A=
NG_028266.1:g.11359T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.334A= MANE Select ENSP00000367615.3:p.Ile112=
ENST00000378364.7:c.334A= ENSP00000367615.3:p.Ile112=
ENST00000426324.6:c.334A= ENSP00000397007.2:p.Ile112=
ENST00000562464.1:n.344A=
ENST00000563655.5:c.253A= ENSP00000456012.1:p.Ile85=
ENST00000567057.5:n.133A=
ENST00000567391.5:c.*8A= ENSP00000457964.1:n.*8A=
ENST00000567713.5:c.321+287A= ENSP00000455749.1:n.321+287A=
ENST00000568319.5:c.*8A= ENSP00000456905.1:n.*8A=
ENST00000568575.1:n.263A=
ENST00000569616.1:c.332A=
NM_000485.2:c.334A= NP_000476.1:p.Ile112=
NM_001030018.1:c.334A= NP_001025189.1:p.Ile112=
NM_000485.3:c.334A= MANE Select NP_000476.1:p.Ile112=
NM_001030018.2:c.334A= NP_001025189.1:p.Ile112=