Canonical Allele Identifier: CA2241308127
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810104C= , CM000678.2:g.88810104C= GRCh38
NC_000016.9:g.88876512C= , CM000678.1:g.88876512C= GRCh37
NC_000016.8:g.87404013C= NCBI36
NG_008013.1:g.6831G=
NG_028266.1:g.11327C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.366G= MANE Select ENSP00000367615.3:p.Arg122=
ENST00000378364.7:c.366G= ENSP00000367615.3:p.Arg122=
ENST00000426324.6:c.366G= ENSP00000397007.2:p.Arg122=
ENST00000562464.1:n.376G=
ENST00000563655.5:c.285G= ENSP00000456012.1:p.Arg95=
ENST00000567057.5:n.165G=
ENST00000567391.5:c.*40G= ENSP00000457964.1:n.*40G=
ENST00000567713.5:c.321+319G= ENSP00000455749.1:n.321+319G=
ENST00000568319.5:c.*40G= ENSP00000456905.1:n.*40G=
ENST00000568575.1:n.295G=
ENST00000569616.1:c.364G=
NM_000485.2:c.366G= NP_000476.1:p.Arg122=
NM_001030018.1:c.366G= NP_001025189.1:p.Arg122=
NM_000485.3:c.366G= MANE Select NP_000476.1:p.Arg122=
NM_001030018.2:c.366G= NP_001025189.1:p.Arg122=