Canonical Allele Identifier: CA397088061
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810144T>C , CM000678.2:g.88810144T>C GRCh38
NC_000016.9:g.88876552T>C , CM000678.1:g.88876552T>C GRCh37
NC_000016.8:g.87404053T>C NCBI36
NG_008013.1:g.6791A>G
NG_028266.1:g.11367T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.326A>G MANE Select ENSP00000367615.3:p.Glu109Gly
ENST00000378364.7:c.326A>G ENSP00000367615.3:p.Glu109Gly
ENST00000426324.6:c.326A>G ENSP00000397007.2:p.Glu109Gly
ENST00000562464.1:n.336A>G
ENST00000563655.5:c.245A>G ENSP00000456012.1:p.Glu82Gly
ENST00000567057.5:n.125A>G
ENST00000567391.5:c.192A>G ENSP00000457964.1:p.Ter64Trp
ENST00000567713.5:c.321+279A>G ENSP00000455749.1:n.321+279A>G
ENST00000568319.5:c.192A>G ENSP00000456905.1:p.Ter64Trp
ENST00000568575.1:n.255A>G
ENST00000569616.1:c.324A>G
NM_000485.2:c.326A>G NP_000476.1:p.Glu109Gly
NM_001030018.1:c.326A>G NP_001025189.1:p.Glu109Gly
NM_000485.3:c.326A>G MANE Select NP_000476.1:p.Glu109Gly
NM_001030018.2:c.326A>G NP_001025189.1:p.Glu109Gly