Canonical Allele Identifier: CA397090601
Community Standard Title: NM_000485.3(APRT):c.84C>A (p.Asp28Glu)
Gene: APRT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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