Canonical Allele Identifier: CA2634887058

Gene: APRT

Linked Data

• gnomAD v4: 16-88809620-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809620C>A , CM000678.2:g.88809620C>A	GRCh38
NC_000016.9:g.88876028C>A , CM000678.1:g.88876028C>A	GRCh37
NC_000016.8:g.87403529C>A	NCBI36
NG_008013.1:g.7315G>T
NG_028266.1:g.10843C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*78G>T MANE Select	ENSP00000367615.3:n.*78G>T
ENST00000378364.7:c.*78G>T	ENSP00000367615.3:n.*78G>T
ENST00000426324.6:c.*82G>T	ENSP00000397007.2:n.*82G>T
ENST00000563655.5:c.*78G>T	ENSP00000456012.1:n.*78G>T
ENST00000567057.5:n.286G>T
ENST00000567391.5:c.*295G>T	ENSP00000457964.1:n.*295G>T
ENST00000567713.5:c.322-85G>T	ENSP00000455749.1:n.322-85G>T
ENST00000568319.5:c.*161G>T	ENSP00000456905.1:n.*161G>T
ENST00000569616.1:c.686G>T
NM_000485.2:c.*78G>T	NP_000476.1:n.*78G>T
NM_001030018.1:c.*82G>T	NP_001025189.1:n.*82G>T
NM_000485.3:c.*78G>T MANE Select	NP_000476.1:n.*78G>T
NM_001030018.2:c.*82G>T	NP_001025189.1:n.*82G>T