Canonical Allele Identifier: CA2241308070
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810024A= , CM000678.2:g.88810024A= GRCh38
NC_000016.9:g.88876432A= , CM000678.1:g.88876432A= GRCh37
NC_000016.8:g.87403933A= NCBI36
NG_008013.1:g.6911T=
NG_028266.1:g.11247A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.400+46T= MANE Select ENSP00000367615.3:n.400+46T=
ENST00000378364.7:c.400+46T= ENSP00000367615.3:n.400+46T=
ENST00000426324.6:c.400+46T= ENSP00000397007.2:n.400+46T=
ENST00000562464.1:n.410+46T=
ENST00000563655.5:c.319+46T= ENSP00000456012.1:n.319+46T=
ENST00000567057.5:n.199+46T=
ENST00000567391.5:c.*74+46T= ENSP00000457964.1:n.*74+46T=
ENST00000567713.5:c.321+399T= ENSP00000455749.1:n.321+399T=
ENST00000568319.5:c.*74+46T= ENSP00000456905.1:n.*74+46T=
ENST00000568575.1:n.329+46T=
ENST00000569616.1:c.398+46T=
NM_000485.2:c.400+46T= NP_000476.1:n.400+46T=
NM_001030018.1:c.400+46T= NP_001025189.1:n.400+46T=
NM_000485.3:c.400+46T= MANE Select NP_000476.1:n.400+46T=
NM_001030018.2:c.400+46T= NP_001025189.1:n.400+46T=