Canonical Allele Identifier: CA2841422805
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809617G>T , CM000678.2:g.88809617G>T GRCh38
NC_000016.9:g.88876025G>T , CM000678.1:g.88876025G>T GRCh37
NC_000016.8:g.87403526G>T NCBI36
NG_008013.1:g.7318C>A
NG_028266.1:g.10840G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*81C>A MANE Select ENSP00000367615.3:n.*81C>A
ENST00000378364.7:c.*81C>A ENSP00000367615.3:n.*81C>A
ENST00000426324.6:c.*85C>A ENSP00000397007.2:n.*85C>A
ENST00000563655.5:c.*81C>A ENSP00000456012.1:n.*81C>A
ENST00000567057.5:n.289C>A
ENST00000567391.5:c.*298C>A ENSP00000457964.1:n.*298C>A
ENST00000567713.5:c.322-82C>A ENSP00000455749.1:n.322-82C>A
ENST00000568319.5:c.*164C>A ENSP00000456905.1:n.*164C>A
ENST00000569616.1:c.689C>A
NM_000485.2:c.*81C>A NP_000476.1:n.*81C>A
NM_001030018.1:c.*85C>A NP_001025189.1:n.*85C>A
NM_000485.3:c.*81C>A MANE Select NP_000476.1:n.*81C>A
NM_001030018.2:c.*85C>A NP_001025189.1:n.*85C>A