Canonical Allele Identifier: CA2634887243

Gene: APRT

Linked Data

• gnomAD v4: 16-88810017-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810017C>A , CM000678.2:g.88810017C>A	GRCh38
NC_000016.9:g.88876425C>A , CM000678.1:g.88876425C>A	GRCh37
NC_000016.8:g.87403926C>A	NCBI36
NG_008013.1:g.6918G>T
NG_028266.1:g.11240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.400+53G>T MANE Select	ENSP00000367615.3:n.400+53G>T
ENST00000378364.7:c.400+53G>T	ENSP00000367615.3:n.400+53G>T
ENST00000426324.6:c.400+53G>T	ENSP00000397007.2:n.400+53G>T
ENST00000562464.1:n.410+53G>T
ENST00000563655.5:c.319+53G>T	ENSP00000456012.1:n.319+53G>T
ENST00000567057.5:n.199+53G>T
ENST00000567391.5:c.*74+53G>T	ENSP00000457964.1:n.*74+53G>T
ENST00000567713.5:c.321+406G>T	ENSP00000455749.1:n.321+406G>T
ENST00000568319.5:c.*74+53G>T	ENSP00000456905.1:n.*74+53G>T
ENST00000568575.1:n.329+53G>T
ENST00000569616.1:c.398+53G>T
NM_000485.2:c.400+53G>T	NP_000476.1:n.400+53G>T
NM_001030018.1:c.400+53G>T	NP_001025189.1:n.400+53G>T
NM_000485.3:c.400+53G>T MANE Select	NP_000476.1:n.400+53G>T
NM_001030018.2:c.400+53G>T	NP_001025189.1:n.400+53G>T