Canonical Allele Identifier: CA2581280531
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809695T>A , CM000678.2:g.88809695T>A GRCh38
NC_000016.9:g.88876103T>A , CM000678.1:g.88876103T>A GRCh37
NC_000016.8:g.87403604T>A NCBI36
NG_008013.1:g.7240A>T
NG_028266.1:g.10918T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*3A>T MANE Select ENSP00000367615.3:n.*3A>T
ENST00000378364.7:c.*3A>T ENSP00000367615.3:n.*3A>T
ENST00000426324.6:c.*7A>T ENSP00000397007.2:n.*7A>T
ENST00000563655.5:c.*3A>T ENSP00000456012.1:n.*3A>T
ENST00000567057.5:n.211A>T
ENST00000567391.5:c.*220A>T ENSP00000457964.1:n.*220A>T
ENST00000567713.5:c.322-160A>T ENSP00000455749.1:n.322-160A>T
ENST00000568319.5:c.*86A>T ENSP00000456905.1:n.*86A>T
ENST00000568575.1:n.475A>T
ENST00000569616.1:c.611A>T
NM_000485.2:c.*3A>T NP_000476.1:n.*3A>T
NM_001030018.1:c.*7A>T NP_001025189.1:n.*7A>T
NM_000485.3:c.*3A>T MANE Select NP_000476.1:n.*3A>T
NM_001030018.2:c.*7A>T NP_001025189.1:n.*7A>T