Canonical Allele Identifier: CA397088089
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810150T>G , CM000678.2:g.88810150T>G GRCh38
NC_000016.9:g.88876558T>G , CM000678.1:g.88876558T>G GRCh37
NC_000016.8:g.87404059T>G NCBI36
NG_008013.1:g.6785A>C
NG_028266.1:g.11373T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.322-2A>C MANE Select ENSP00000367615.3:n.322-2A>C
ENST00000378364.7:c.322-2A>C ENSP00000367615.3:n.322-2A>C
ENST00000426324.6:c.322-2A>C ENSP00000397007.2:n.322-2A>C
ENST00000562464.1:n.332-2A>C
ENST00000563655.5:c.241-2A>C ENSP00000456012.1:n.241-2A>C
ENST00000567057.5:n.119A>C
ENST00000567391.5:c.188-2A>C ENSP00000457964.1:n.188-2A>C
ENST00000567713.5:c.321+273A>C ENSP00000455749.1:n.321+273A>C
ENST00000568319.5:c.188-2A>C ENSP00000456905.1:n.188-2A>C
ENST00000568575.1:n.249A>C
ENST00000569616.1:c.320-2A>C
NM_000485.2:c.322-2A>C NP_000476.1:n.322-2A>C
NM_001030018.1:c.322-2A>C NP_001025189.1:n.322-2A>C
NM_000485.3:c.322-2A>C MANE Select NP_000476.1:n.322-2A>C
NM_001030018.2:c.322-2A>C NP_001025189.1:n.322-2A>C