Canonical Allele Identifier: CA2808070160
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809673G>C , CM000678.2:g.88809673G>C GRCh38
NC_000016.9:g.88876081G>C , CM000678.1:g.88876081G>C GRCh37
NC_000016.8:g.87403582G>C NCBI36
NG_008013.1:g.7262C>G
NG_028266.1:g.10896G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*25C>G MANE Select ENSP00000367615.3:n.*25C>G
ENST00000378364.7:c.*25C>G ENSP00000367615.3:n.*25C>G
ENST00000426324.6:c.*29C>G ENSP00000397007.2:n.*29C>G
ENST00000563655.5:c.*25C>G ENSP00000456012.1:n.*25C>G
ENST00000567057.5:n.233C>G
ENST00000567391.5:c.*242C>G ENSP00000457964.1:n.*242C>G
ENST00000567713.5:c.322-138C>G ENSP00000455749.1:n.322-138C>G
ENST00000568319.5:c.*108C>G ENSP00000456905.1:n.*108C>G
ENST00000569616.1:c.633C>G
NM_000485.2:c.*25C>G NP_000476.1:n.*25C>G
NM_001030018.1:c.*29C>G NP_001025189.1:n.*29C>G
NM_000485.3:c.*25C>G MANE Select NP_000476.1:n.*25C>G
NM_001030018.2:c.*29C>G NP_001025189.1:n.*29C>G