Canonical Allele Identifier: CA2838888817
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809618T>C , CM000678.2:g.88809618T>C GRCh38
NC_000016.9:g.88876026T>C , CM000678.1:g.88876026T>C GRCh37
NC_000016.8:g.87403527T>C NCBI36
NG_008013.1:g.7317A>G
NG_028266.1:g.10841T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*80A>G MANE Select ENSP00000367615.3:n.*80A>G
ENST00000378364.7:c.*80A>G ENSP00000367615.3:n.*80A>G
ENST00000426324.6:c.*84A>G ENSP00000397007.2:n.*84A>G
ENST00000563655.5:c.*80A>G ENSP00000456012.1:n.*80A>G
ENST00000567057.5:n.288A>G
ENST00000567391.5:c.*297A>G ENSP00000457964.1:n.*297A>G
ENST00000567713.5:c.322-83A>G ENSP00000455749.1:n.322-83A>G
ENST00000568319.5:c.*163A>G ENSP00000456905.1:n.*163A>G
ENST00000569616.1:c.688A>G
NM_000485.2:c.*80A>G NP_000476.1:n.*80A>G
NM_001030018.1:c.*84A>G NP_001025189.1:n.*84A>G
NM_000485.3:c.*80A>G MANE Select NP_000476.1:n.*80A>G
NM_001030018.2:c.*84A>G NP_001025189.1:n.*84A>G