Canonical Allele Identifier: CA2634887268

Gene: APRT

Linked Data

• gnomAD v4: 16-88810060-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810060A>G , CM000678.2:g.88810060A>G	GRCh38
NC_000016.9:g.88876468A>G , CM000678.1:g.88876468A>G	GRCh37
NC_000016.8:g.87403969A>G	NCBI36
NG_008013.1:g.6875T>C
NG_028266.1:g.11283A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.400+10T>C MANE Select	ENSP00000367615.3:n.400+10T>C
ENST00000378364.7:c.400+10T>C	ENSP00000367615.3:n.400+10T>C
ENST00000426324.6:c.400+10T>C	ENSP00000397007.2:n.400+10T>C
ENST00000562464.1:n.410+10T>C
ENST00000563655.5:c.319+10T>C	ENSP00000456012.1:n.319+10T>C
ENST00000567057.5:n.199+10T>C
ENST00000567391.5:c.*74+10T>C	ENSP00000457964.1:n.*74+10T>C
ENST00000567713.5:c.321+363T>C	ENSP00000455749.1:n.321+363T>C
ENST00000568319.5:c.*74+10T>C	ENSP00000456905.1:n.*74+10T>C
ENST00000568575.1:n.329+10T>C
ENST00000569616.1:c.398+10T>C
NM_000485.2:c.400+10T>C	NP_000476.1:n.400+10T>C
NM_001030018.1:c.400+10T>C	NP_001025189.1:n.400+10T>C
NM_000485.3:c.400+10T>C MANE Select	NP_000476.1:n.400+10T>C
NM_001030018.2:c.400+10T>C	NP_001025189.1:n.400+10T>C