Canonical Allele Identifier: CA2576093950
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809688G>T , CM000678.2:g.88809688G>T GRCh38
NC_000016.9:g.88876096G>T , CM000678.1:g.88876096G>T GRCh37
NC_000016.8:g.87403597G>T NCBI36
NG_008013.1:g.7247C>A
NG_028266.1:g.10911G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*10C>A MANE Select ENSP00000367615.3:n.*10C>A
ENST00000378364.7:c.*10C>A ENSP00000367615.3:n.*10C>A
ENST00000426324.6:c.*14C>A ENSP00000397007.2:n.*14C>A
ENST00000563655.5:c.*10C>A ENSP00000456012.1:n.*10C>A
ENST00000567057.5:n.218C>A
ENST00000567391.5:c.*227C>A ENSP00000457964.1:n.*227C>A
ENST00000567713.5:c.322-153C>A ENSP00000455749.1:n.322-153C>A
ENST00000568319.5:c.*93C>A ENSP00000456905.1:n.*93C>A
ENST00000568575.1:n.482C>A
ENST00000569616.1:c.618C>A
NM_000485.2:c.*10C>A NP_000476.1:n.*10C>A
NM_001030018.1:c.*14C>A NP_001025189.1:n.*14C>A
NM_000485.3:c.*10C>A MANE Select NP_000476.1:n.*10C>A
NM_001030018.2:c.*14C>A NP_001025189.1:n.*14C>A