Canonical Allele Identifier: CA2839599525
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809633C>T , CM000678.2:g.88809633C>T GRCh38
NC_000016.9:g.88876041C>T , CM000678.1:g.88876041C>T GRCh37
NC_000016.8:g.87403542C>T NCBI36
NG_008013.1:g.7302G>A
NG_028266.1:g.10856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*65G>A MANE Select ENSP00000367615.3:n.*65G>A
ENST00000378364.7:c.*65G>A ENSP00000367615.3:n.*65G>A
ENST00000426324.6:c.*69G>A ENSP00000397007.2:n.*69G>A
ENST00000563655.5:c.*65G>A ENSP00000456012.1:n.*65G>A
ENST00000567057.5:n.273G>A
ENST00000567391.5:c.*282G>A ENSP00000457964.1:n.*282G>A
ENST00000567713.5:c.322-98G>A ENSP00000455749.1:n.322-98G>A
ENST00000568319.5:c.*148G>A ENSP00000456905.1:n.*148G>A
ENST00000569616.1:c.673G>A
NM_000485.2:c.*65G>A NP_000476.1:n.*65G>A
NM_001030018.1:c.*69G>A NP_001025189.1:n.*69G>A
NM_000485.3:c.*65G>A MANE Select NP_000476.1:n.*65G>A
NM_001030018.2:c.*69G>A NP_001025189.1:n.*69G>A