Canonical Allele Identifier: CA2808070159
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809635G>T , CM000678.2:g.88809635G>T GRCh38
NC_000016.9:g.88876043G>T , CM000678.1:g.88876043G>T GRCh37
NC_000016.8:g.87403544G>T NCBI36
NG_008013.1:g.7300C>A
NG_028266.1:g.10858G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*63C>A MANE Select ENSP00000367615.3:n.*63C>A
ENST00000378364.7:c.*63C>A ENSP00000367615.3:n.*63C>A
ENST00000426324.6:c.*67C>A ENSP00000397007.2:n.*67C>A
ENST00000563655.5:c.*63C>A ENSP00000456012.1:n.*63C>A
ENST00000567057.5:n.271C>A
ENST00000567391.5:c.*280C>A ENSP00000457964.1:n.*280C>A
ENST00000567713.5:c.322-100C>A ENSP00000455749.1:n.322-100C>A
ENST00000568319.5:c.*146C>A ENSP00000456905.1:n.*146C>A
ENST00000569616.1:c.671C>A
NM_000485.2:c.*63C>A NP_000476.1:n.*63C>A
NM_001030018.1:c.*67C>A NP_001025189.1:n.*67C>A
NM_000485.3:c.*63C>A MANE Select NP_000476.1:n.*63C>A
NM_001030018.2:c.*67C>A NP_001025189.1:n.*67C>A