Canonical Allele Identifier: CA397086057
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809704A>C , CM000678.2:g.88809704A>C GRCh38
NC_000016.9:g.88876112A>C , CM000678.1:g.88876112A>C GRCh37
NC_000016.8:g.87403613A>C NCBI36
NG_008013.1:g.7231T>G
NG_028266.1:g.10927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.537T>G MANE Select ENSP00000367615.3:p.Tyr179Ter
ENST00000378364.7:c.537T>G ENSP00000367615.3:p.Tyr179Ter
ENST00000426324.6:c.403T>G ENSP00000397007.2:p.Ter135Gly
ENST00000563655.5:c.456T>G ENSP00000456012.1:p.Tyr152Ter
ENST00000567057.5:n.202T>G
ENST00000567391.5:c.*211T>G ENSP00000457964.1:n.*211T>G
ENST00000567713.5:c.322-169T>G ENSP00000455749.1:n.322-169T>G
ENST00000568319.5:c.*77T>G ENSP00000456905.1:n.*77T>G
ENST00000568575.1:n.466T>G
ENST00000569616.1:c.602T>G
NM_000485.2:c.537T>G NP_000476.1:p.Tyr179Ter
NM_001030018.1:c.403T>G NP_001025189.1:p.Ter135Gly
NM_000485.3:c.537T>G MANE Select NP_000476.1:p.Tyr179Ter
NM_001030018.2:c.403T>G NP_001025189.1:p.Ter135Gly