Canonical Allele Identifier: CA2634887524

Gene: APRT

Linked Data

• gnomAD v4: 16-88810278-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810278C>T , CM000678.2:g.88810278C>T	GRCh38
NC_000016.9:g.88876686C>T , CM000678.1:g.88876686C>T	GRCh37
NC_000016.8:g.87404187C>T	NCBI36
NG_008013.1:g.6657G>A
NG_028266.1:g.11501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-130G>A MANE Select	ENSP00000367615.3:n.322-130G>A
ENST00000378364.7:c.322-130G>A	ENSP00000367615.3:n.322-130G>A
ENST00000426324.6:c.322-130G>A	ENSP00000397007.2:n.322-130G>A
ENST00000562464.1:n.332-130G>A
ENST00000563655.5:c.241-130G>A	ENSP00000456012.1:n.241-130G>A
ENST00000567391.5:c.188-130G>A	ENSP00000457964.1:n.188-130G>A
ENST00000567713.5:c.321+145G>A	ENSP00000455749.1:n.321+145G>A
ENST00000568319.5:c.188-130G>A	ENSP00000456905.1:n.188-130G>A
ENST00000568575.1:n.121G>A
ENST00000569616.1:c.320-130G>A
NM_000485.2:c.322-130G>A	NP_000476.1:n.322-130G>A
NM_001030018.1:c.322-130G>A	NP_001025189.1:n.322-130G>A
NM_000485.3:c.322-130G>A MANE Select	NP_000476.1:n.322-130G>A
NM_001030018.2:c.322-130G>A	NP_001025189.1:n.322-130G>A