Canonical Allele Identifier: CA397087969
Gene: APRT HGNC NCBI

Linked Data

dbSNP Id: rs1452516286

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810126T>C , CM000678.2:g.88810126T>C GRCh38
NC_000016.9:g.88876534T>C , CM000678.1:g.88876534T>C GRCh37
NC_000016.8:g.87404035T>C NCBI36
NG_008013.1:g.6809A>G
NG_028266.1:g.11349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.344A>G MANE Select ENSP00000367615.3:p.Asp115Gly
ENST00000378364.7:c.344A>G ENSP00000367615.3:p.Asp115Gly
ENST00000426324.6:c.344A>G ENSP00000397007.2:p.Asp115Gly
ENST00000562464.1:n.354A>G
ENST00000563655.5:c.263A>G ENSP00000456012.1:p.Asp88Gly
ENST00000567057.5:n.143A>G
ENST00000567391.5:c.*18A>G ENSP00000457964.1:n.*18A>G
ENST00000567713.5:c.321+297A>G ENSP00000455749.1:n.321+297A>G
ENST00000568319.5:c.*18A>G ENSP00000456905.1:n.*18A>G
ENST00000568575.1:n.273A>G
ENST00000569616.1:c.342A>G
NM_000485.2:c.344A>G NP_000476.1:p.Asp115Gly
NM_001030018.1:c.344A>G NP_001025189.1:p.Asp115Gly
NM_000485.3:c.344A>G MANE Select NP_000476.1:p.Asp115Gly
NM_001030018.2:c.344A>G NP_001025189.1:p.Asp115Gly