Canonical Allele Identifier: CA397086032
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809700A>T , CM000678.2:g.88809700A>T GRCh38
NC_000016.9:g.88876108A>T , CM000678.1:g.88876108A>T GRCh37
NC_000016.8:g.87403609A>T NCBI36
NG_008013.1:g.7235T>A
NG_028266.1:g.10923A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.541T>A MANE Select ENSP00000367615.3:p.Ter181Arg
ENST00000378364.7:c.541T>A ENSP00000367615.3:p.Ter181Arg
ENST00000426324.6:c.*2T>A ENSP00000397007.2:n.*2T>A
ENST00000563655.5:c.460T>A ENSP00000456012.1:p.Ter154Arg
ENST00000567057.5:n.206T>A
ENST00000567391.5:c.*215T>A ENSP00000457964.1:n.*215T>A
ENST00000567713.5:c.322-165T>A ENSP00000455749.1:n.322-165T>A
ENST00000568319.5:c.*81T>A ENSP00000456905.1:n.*81T>A
ENST00000568575.1:n.470T>A
ENST00000569616.1:c.606T>A
NM_000485.2:c.541T>A NP_000476.1:p.Ter181Arg
NM_001030018.1:c.*2T>A NP_001025189.1:n.*2T>A
NM_000485.3:c.541T>A MANE Select NP_000476.1:p.Ter181Arg
NM_001030018.2:c.*2T>A NP_001025189.1:n.*2T>A