Canonical Allele Identifier: CA397086043
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809702T>C , CM000678.2:g.88809702T>C GRCh38
NC_000016.9:g.88876110T>C , CM000678.1:g.88876110T>C GRCh37
NC_000016.8:g.87403611T>C NCBI36
NG_008013.1:g.7233A>G
NG_028266.1:g.10925T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.539A>G MANE Select ENSP00000367615.3:p.Glu180Gly
ENST00000378364.7:c.539A>G ENSP00000367615.3:p.Glu180Gly
ENST00000426324.6:c.405A>G ENSP00000397007.2:p.Ter135Trp
ENST00000563655.5:c.458A>G ENSP00000456012.1:p.Glu153Gly
ENST00000567057.5:n.204A>G
ENST00000567391.5:c.*213A>G ENSP00000457964.1:n.*213A>G
ENST00000567713.5:c.322-167A>G ENSP00000455749.1:n.322-167A>G
ENST00000568319.5:c.*79A>G ENSP00000456905.1:n.*79A>G
ENST00000568575.1:n.468A>G
ENST00000569616.1:c.604A>G
NM_000485.2:c.539A>G NP_000476.1:p.Glu180Gly
NM_001030018.1:c.405A>G NP_001025189.1:p.Ter135Trp
NM_000485.3:c.539A>G MANE Select NP_000476.1:p.Glu180Gly
NM_001030018.2:c.405A>G NP_001025189.1:p.Ter135Trp