Canonical Allele Identifier: CA2634887708

Gene: APRT

Linked Data

• gnomAD v4: 16-88810365-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810365G>A , CM000678.2:g.88810365G>A	GRCh38
NC_000016.9:g.88876773G>A , CM000678.1:g.88876773G>A	GRCh37
NC_000016.8:g.87404274G>A	NCBI36
NG_008013.1:g.6570C>T
NG_028266.1:g.11588G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.321+58C>T MANE Select	ENSP00000367615.3:n.321+58C>T
ENST00000378364.7:c.321+58C>T	ENSP00000367615.3:n.321+58C>T
ENST00000426324.6:c.321+58C>T	ENSP00000397007.2:n.321+58C>T
ENST00000562464.1:n.332-217C>T
ENST00000563655.5:c.241-217C>T	ENSP00000456012.1:n.241-217C>T
ENST00000567391.5:c.188-217C>T	ENSP00000457964.1:n.188-217C>T
ENST00000567713.5:c.321+58C>T	ENSP00000455749.1:n.321+58C>T
ENST00000568319.5:c.188-217C>T	ENSP00000456905.1:n.188-217C>T
ENST00000568575.1:n.34C>T
ENST00000569616.1:c.319+58C>T
NM_000485.2:c.321+58C>T	NP_000476.1:n.321+58C>T
NM_001030018.1:c.321+58C>T	NP_001025189.1:n.321+58C>T
NM_000485.3:c.321+58C>T MANE Select	NP_000476.1:n.321+58C>T
NM_001030018.2:c.321+58C>T	NP_001025189.1:n.321+58C>T