Canonical Allele Identifier: CA397090594
Community Standard Title: NM_000485.3(APRT):c.84C>G (p.Asp28Glu)
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88811653G>C , CM000678.2:g.88811653G>C GRCh38
NC_000016.9:g.88878061G>C , CM000678.1:g.88878061G>C GRCh37
NC_000016.8:g.87405562G>C NCBI36
NG_008013.1:g.5282C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000485.3:c.84C>G MANE Select NP_000476.1:p.Asp28Glu
ENST00000378364.8:c.84C>G MANE Select ENSP00000367615.3:p.Asp28Glu
NM_000485.2:c.84C>G NP_000476.1:p.Asp28Glu
NM_001030018.1:c.84C>G NP_001025189.1:p.Asp28Glu
NM_001030018.2:c.84C>G NP_001025189.1:p.Asp28Glu
ENST00000378364.7:c.84C>G ENSP00000367615.3:p.Asp28Glu
ENST00000426324.6:c.84C>G ENSP00000397007.2:p.Asp28Glu
ENST00000562464.1:n.228C>G
ENST00000563655.5:c.84C>G ENSP00000456012.1:p.Asp28Glu
ENST00000564858.1:n.105C>G
ENST00000567391.5:c.84C>G ENSP00000457964.1:p.Asp28Glu
ENST00000567713.5:c.84C>G ENSP00000455749.1:p.Asp28Glu
ENST00000568319.5:c.84C>G ENSP00000456905.1:p.Asp28Glu
ENST00000569616.1:c.82C>G