Canonical Allele Identifier: CA2241308042
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809986G= , CM000678.2:g.88809986G= GRCh38
NC_000016.9:g.88876394G= , CM000678.1:g.88876394G= GRCh37
NC_000016.8:g.87403895G= NCBI36
NG_008013.1:g.6949C=
NG_028266.1:g.11209G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.400+84C= MANE Select ENSP00000367615.3:n.400+84C=
ENST00000378364.7:c.400+84C= ENSP00000367615.3:n.400+84C=
ENST00000426324.6:c.400+84C= ENSP00000397007.2:n.400+84C=
ENST00000562464.1:n.410+84C=
ENST00000563655.5:c.319+84C= ENSP00000456012.1:n.319+84C=
ENST00000567057.5:n.199+84C=
ENST00000567391.5:c.*74+84C= ENSP00000457964.1:n.*74+84C=
ENST00000567713.5:c.321+437C= ENSP00000455749.1:n.321+437C=
ENST00000568319.5:c.*74+84C= ENSP00000456905.1:n.*74+84C=
ENST00000568575.1:n.329+84C=
ENST00000569616.1:c.399-79C=
NM_000485.2:c.400+84C= NP_000476.1:n.400+84C=
NM_001030018.1:c.400+84C= NP_001025189.1:n.400+84C=
NM_000485.3:c.400+84C= MANE Select NP_000476.1:n.400+84C=
NM_001030018.2:c.400+84C= NP_001025189.1:n.400+84C=