Canonical Allele Identifier: CA8234510
Gene: APRT HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88810528G>T
GRCh37 chr16:g.88876936G>T
gnomAD v2:
16:88876936 G / T
gnomAD v3:
16:88810528 G / T
gnomAD v4:
chr16-88810528-G-T
Joint Max Group AF 0.00013833 (NFE)
Genomes Max Group AF 0.00007909 (NFE)
Exomes Max Group AF 0.00013883 (NFE)
ClinVar RCV:
RCV000349759
RCV002056542
ClinVar Variation:
321164
dbSNP:
377050219
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810528G>T , CM000678.2:g.88810528G>T GRCh38
NC_000016.9:g.88876936G>T , CM000678.1:g.88876936G>T GRCh37
NC_000016.8:g.87404437G>T NCBI36
NG_008013.1:g.6407C>A
NG_028266.1:g.11751G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.216C>A MANE Select ENSP00000367615.3:p.Gly72=
ENST00000378364.7:c.216C>A ENSP00000367615.3:p.Gly72=
ENST00000426324.6:c.216C>A ENSP00000397007.2:p.Gly72=
ENST00000562464.1:n.332-380C>A
ENST00000563655.5:c.241-380C>A ENSP00000456012.1:n.241-380C>A
ENST00000567391.5:c.188-380C>A ENSP00000457964.1:n.188-380C>A
ENST00000567713.5:c.216C>A ENSP00000455749.1:p.Gly72=
ENST00000568319.5:c.188-380C>A ENSP00000456905.1:n.188-380C>A
ENST00000569616.1:c.214C>A
NM_000485.2:c.216C>A NP_000476.1:p.Gly72=
NM_001030018.1:c.216C>A NP_001025189.1:p.Gly72=
NM_000485.3:c.216C>A MANE Select NP_000476.1:p.Gly72=
NM_001030018.2:c.216C>A NP_001025189.1:p.Gly72=
Search 100 bp 5'
Search 100 bp 3'