Canonical Allele Identifier: CA397088395
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810473T>G , CM000678.2:g.88810473T>G GRCh38
NC_000016.9:g.88876881T>G , CM000678.1:g.88876881T>G GRCh37
NC_000016.8:g.87404382T>G NCBI36
NG_008013.1:g.6462A>C
NG_028266.1:g.11696T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.271A>C MANE Select ENSP00000367615.3:p.Lys91Gln
ENST00000378364.7:c.271A>C ENSP00000367615.3:p.Lys91Gln
ENST00000426324.6:c.271A>C ENSP00000397007.2:p.Lys91Gln
ENST00000562464.1:n.332-325A>C
ENST00000563655.5:c.241-325A>C ENSP00000456012.1:n.241-325A>C
ENST00000567391.5:c.188-325A>C ENSP00000457964.1:n.188-325A>C
ENST00000567713.5:c.271A>C ENSP00000455749.1:p.Lys91Gln
ENST00000568319.5:c.188-325A>C ENSP00000456905.1:n.188-325A>C
ENST00000569616.1:c.269A>C
NM_000485.2:c.271A>C NP_000476.1:p.Lys91Gln
NM_001030018.1:c.271A>C NP_001025189.1:p.Lys91Gln
NM_000485.3:c.271A>C MANE Select NP_000476.1:p.Lys91Gln
NM_001030018.2:c.271A>C NP_001025189.1:p.Lys91Gln