Canonical Allele Identifier: CA397087700
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810089A>T , CM000678.2:g.88810089A>T GRCh38
NC_000016.9:g.88876497A>T , CM000678.1:g.88876497A>T GRCh37
NC_000016.8:g.87403998A>T NCBI36
NG_008013.1:g.6846T>A
NG_028266.1:g.11312A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.381T>A MANE Select ENSP00000367615.3:p.Asp127Glu
ENST00000378364.7:c.381T>A ENSP00000367615.3:p.Asp127Glu
ENST00000426324.6:c.381T>A ENSP00000397007.2:p.Asp127Glu
ENST00000562464.1:n.391T>A
ENST00000563655.5:c.300T>A ENSP00000456012.1:p.Asp100Glu
ENST00000567057.5:n.180T>A
ENST00000567391.5:c.*55T>A ENSP00000457964.1:n.*55T>A
ENST00000567713.5:c.321+334T>A ENSP00000455749.1:n.321+334T>A
ENST00000568319.5:c.*55T>A ENSP00000456905.1:n.*55T>A
ENST00000568575.1:n.310T>A
ENST00000569616.1:c.379T>A
NM_000485.2:c.381T>A NP_000476.1:p.Asp127Glu
NM_001030018.1:c.381T>A NP_001025189.1:p.Asp127Glu
NM_000485.3:c.381T>A MANE Select NP_000476.1:p.Asp127Glu
NM_001030018.2:c.381T>A NP_001025189.1:p.Asp127Glu