Canonical Allele Identifier: CA397086114
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809711A>G , CM000678.2:g.88809711A>G GRCh38
NC_000016.9:g.88876119A>G , CM000678.1:g.88876119A>G GRCh37
NC_000016.8:g.87403620A>G NCBI36
NG_008013.1:g.7224T>C
NG_028266.1:g.10934A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.530T>C MANE Select ENSP00000367615.3:p.Leu177Pro
ENST00000378364.7:c.530T>C ENSP00000367615.3:p.Leu177Pro
ENST00000426324.6:c.401-5T>C ENSP00000397007.2:n.401-5T>C
ENST00000563655.5:c.449T>C ENSP00000456012.1:p.Leu150Pro
ENST00000567057.5:n.200-5T>C
ENST00000567391.5:c.*204T>C ENSP00000457964.1:n.*204T>C
ENST00000567713.5:c.322-176T>C ENSP00000455749.1:n.322-176T>C
ENST00000568319.5:c.*75-5T>C ENSP00000456905.1:n.*75-5T>C
ENST00000568575.1:n.459T>C
ENST00000569616.1:c.595T>C
NM_000485.2:c.530T>C NP_000476.1:p.Leu177Pro
NM_001030018.1:c.401-5T>C NP_001025189.1:n.401-5T>C
NM_000485.3:c.530T>C MANE Select NP_000476.1:p.Leu177Pro
NM_001030018.2:c.401-5T>C NP_001025189.1:n.401-5T>C