Canonical Allele Identifier: CA2241307849
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809707C= , CM000678.2:g.88809707C= GRCh38
NC_000016.9:g.88876115C= , CM000678.1:g.88876115C= GRCh37
NC_000016.8:g.87403616C= NCBI36
NG_008013.1:g.7228G=
NG_028266.1:g.10930C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.534G= MANE Select ENSP00000367615.3:p.Gln178=
ENST00000378364.7:c.534G= ENSP00000367615.3:p.Gln178=
ENST00000426324.6:c.401-1G= ENSP00000397007.2:n.401-1G=
ENST00000563655.5:c.453G= ENSP00000456012.1:p.Gln151=
ENST00000567057.5:n.200-1G=
ENST00000567391.5:c.*208G= ENSP00000457964.1:n.*208G=
ENST00000567713.5:c.322-172G= ENSP00000455749.1:n.322-172G=
ENST00000568319.5:c.*75-1G= ENSP00000456905.1:n.*75-1G=
ENST00000568575.1:n.463G=
ENST00000569616.1:c.599G=
NM_000485.2:c.534G= NP_000476.1:p.Gln178=
NM_001030018.1:c.401-1G= NP_001025189.1:n.401-1G=
NM_000485.3:c.534G= MANE Select NP_000476.1:p.Gln178=
NM_001030018.2:c.401-1G= NP_001025189.1:n.401-1G=