Canonical Allele Identifier: CA2241308102
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810071A= , CM000678.2:g.88810071A= GRCh38
NC_000016.9:g.88876479A= , CM000678.1:g.88876479A= GRCh37
NC_000016.8:g.87403980A= NCBI36
NG_008013.1:g.6864T=
NG_028266.1:g.11294A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.399T= MANE Select ENSP00000367615.3:p.Gly133=
ENST00000378364.7:c.399T= ENSP00000367615.3:p.Gly133=
ENST00000426324.6:c.399T= ENSP00000397007.2:p.Gly133=
ENST00000562464.1:n.409T=
ENST00000563655.5:c.318T= ENSP00000456012.1:p.Gly106=
ENST00000567057.5:n.198T=
ENST00000567391.5:c.*73T= ENSP00000457964.1:n.*73T=
ENST00000567713.5:c.321+352T= ENSP00000455749.1:n.321+352T=
ENST00000568319.5:c.*73T= ENSP00000456905.1:n.*73T=
ENST00000568575.1:n.328T=
ENST00000569616.1:c.397T=
NM_000485.2:c.399T= NP_000476.1:p.Gly133=
NM_001030018.1:c.399T= NP_001025189.1:p.Gly133=
NM_000485.3:c.399T= MANE Select NP_000476.1:p.Gly133=
NM_001030018.2:c.399T= NP_001025189.1:p.Gly133=