Canonical Allele Identifier: CA2241308098
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810064C= , CM000678.2:g.88810064C= GRCh38
NC_000016.9:g.88876472C= , CM000678.1:g.88876472C= GRCh37
NC_000016.8:g.87403973C= NCBI36
NG_008013.1:g.6871G=
NG_028266.1:g.11287C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.400+6G= MANE Select ENSP00000367615.3:n.400+6G=
ENST00000378364.7:c.400+6G= ENSP00000367615.3:n.400+6G=
ENST00000426324.6:c.400+6G= ENSP00000397007.2:n.400+6G=
ENST00000562464.1:n.410+6G=
ENST00000563655.5:c.319+6G= ENSP00000456012.1:n.319+6G=
ENST00000567057.5:n.199+6G=
ENST00000567391.5:c.*74+6G= ENSP00000457964.1:n.*74+6G=
ENST00000567713.5:c.321+359G= ENSP00000455749.1:n.321+359G=
ENST00000568319.5:c.*74+6G= ENSP00000456905.1:n.*74+6G=
ENST00000568575.1:n.329+6G=
ENST00000569616.1:c.398+6G=
NM_000485.2:c.400+6G= NP_000476.1:n.400+6G=
NM_001030018.1:c.400+6G= NP_001025189.1:n.400+6G=
NM_000485.3:c.400+6G= MANE Select NP_000476.1:n.400+6G=
NM_001030018.2:c.400+6G= NP_001025189.1:n.400+6G=