Canonical Allele Identifier: CA286426067
Gene: APRT HGNC NCBI

Linked Data

dbSNP Id: rs281860264

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810451C>T , CM000678.2:g.88810451C>T GRCh38
NC_000016.9:g.88876859C>T , CM000678.1:g.88876859C>T GRCh37
NC_000016.8:g.87404360C>T NCBI36
NG_008013.1:g.6484G>A
NG_028266.1:g.11674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.293G>A MANE Select ENSP00000367615.3:p.Trp98Ter
ENST00000378364.7:c.293G>A ENSP00000367615.3:p.Trp98Ter
ENST00000426324.6:c.293G>A ENSP00000397007.2:p.Trp98Ter
ENST00000562464.1:n.332-303G>A
ENST00000563655.5:c.241-303G>A ENSP00000456012.1:n.241-303G>A
ENST00000567391.5:c.188-303G>A ENSP00000457964.1:n.188-303G>A
ENST00000567713.5:c.293G>A ENSP00000455749.1:p.Trp98Ter
ENST00000568319.5:c.188-303G>A ENSP00000456905.1:n.188-303G>A
ENST00000569616.1:c.291G>A
NM_000485.2:c.293G>A NP_000476.1:p.Trp98Ter
NM_001030018.1:c.293G>A NP_001025189.1:p.Trp98Ter
NM_000485.3:c.293G>A MANE Select NP_000476.1:p.Trp98Ter
NM_001030018.2:c.293G>A NP_001025189.1:p.Trp98Ter