Canonical Allele Identifier: CA2634887067

Gene: APRT

Linked Data

• gnomAD v4: 16-88809649-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809649A>T , CM000678.2:g.88809649A>T	GRCh38
NC_000016.9:g.88876057A>T , CM000678.1:g.88876057A>T	GRCh37
NC_000016.8:g.87403558A>T	NCBI36
NG_008013.1:g.7286T>A
NG_028266.1:g.10872A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*49T>A MANE Select	ENSP00000367615.3:n.*49T>A
ENST00000378364.7:c.*49T>A	ENSP00000367615.3:n.*49T>A
ENST00000426324.6:c.*53T>A	ENSP00000397007.2:n.*53T>A
ENST00000563655.5:c.*49T>A	ENSP00000456012.1:n.*49T>A
ENST00000567057.5:n.257T>A
ENST00000567391.5:c.*266T>A	ENSP00000457964.1:n.*266T>A
ENST00000567713.5:c.322-114T>A	ENSP00000455749.1:n.322-114T>A
ENST00000568319.5:c.*132T>A	ENSP00000456905.1:n.*132T>A
ENST00000569616.1:c.657T>A
NM_000485.2:c.*49T>A	NP_000476.1:n.*49T>A
NM_001030018.1:c.*53T>A	NP_001025189.1:n.*53T>A
NM_000485.3:c.*49T>A MANE Select	NP_000476.1:n.*49T>A
NM_001030018.2:c.*53T>A	NP_001025189.1:n.*53T>A