Canonical Allele Identifier: CA2241308144
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810131C= , CM000678.2:g.88810131C= GRCh38
NC_000016.9:g.88876539C= , CM000678.1:g.88876539C= GRCh37
NC_000016.8:g.87404040C= NCBI36
NG_008013.1:g.6804G=
NG_028266.1:g.11354C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.339G= MANE Select ENSP00000367615.3:p.Gln113=
ENST00000378364.7:c.339G= ENSP00000367615.3:p.Gln113=
ENST00000426324.6:c.339G= ENSP00000397007.2:p.Gln113=
ENST00000562464.1:n.349G=
ENST00000563655.5:c.258G= ENSP00000456012.1:p.Gln86=
ENST00000567057.5:n.138G=
ENST00000567391.5:c.*13G= ENSP00000457964.1:n.*13G=
ENST00000567713.5:c.321+292G= ENSP00000455749.1:n.321+292G=
ENST00000568319.5:c.*13G= ENSP00000456905.1:n.*13G=
ENST00000568575.1:n.268G=
ENST00000569616.1:c.337G=
NM_000485.2:c.339G= NP_000476.1:p.Gln113=
NM_001030018.1:c.339G= NP_001025189.1:p.Gln113=
NM_000485.3:c.339G= MANE Select NP_000476.1:p.Gln113=
NM_001030018.2:c.339G= NP_001025189.1:p.Gln113=