Canonical Allele Identifier: CA2241308148
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810141A= , CM000678.2:g.88810141A= GRCh38
NC_000016.9:g.88876549A= , CM000678.1:g.88876549A= GRCh37
NC_000016.8:g.87404050A= NCBI36
NG_008013.1:g.6794T=
NG_028266.1:g.11364A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.329T= MANE Select ENSP00000367615.3:p.Leu110=
ENST00000378364.7:c.329T= ENSP00000367615.3:p.Leu110=
ENST00000426324.6:c.329T= ENSP00000397007.2:p.Leu110=
ENST00000562464.1:n.339T=
ENST00000563655.5:c.248T= ENSP00000456012.1:p.Leu83=
ENST00000567057.5:n.128T=
ENST00000567391.5:c.*3T= ENSP00000457964.1:n.*3T=
ENST00000567713.5:c.321+282T= ENSP00000455749.1:n.321+282T=
ENST00000568319.5:c.*3T= ENSP00000456905.1:n.*3T=
ENST00000568575.1:n.258T=
ENST00000569616.1:c.327T=
NM_000485.2:c.329T= NP_000476.1:p.Leu110=
NM_001030018.1:c.329T= NP_001025189.1:p.Leu110=
NM_000485.3:c.329T= MANE Select NP_000476.1:p.Leu110=
NM_001030018.2:c.329T= NP_001025189.1:p.Leu110=