Canonical Allele Identifier: CA2634887069

Gene: APRT

Linked Data

• gnomAD v4: 16-88809650-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809650T>C , CM000678.2:g.88809650T>C	GRCh38
NC_000016.9:g.88876058T>C , CM000678.1:g.88876058T>C	GRCh37
NC_000016.8:g.87403559T>C	NCBI36
NG_008013.1:g.7285A>G
NG_028266.1:g.10873T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*48A>G MANE Select	ENSP00000367615.3:n.*48A>G
ENST00000378364.7:c.*48A>G	ENSP00000367615.3:n.*48A>G
ENST00000426324.6:c.*52A>G	ENSP00000397007.2:n.*52A>G
ENST00000563655.5:c.*48A>G	ENSP00000456012.1:n.*48A>G
ENST00000567057.5:n.256A>G
ENST00000567391.5:c.*265A>G	ENSP00000457964.1:n.*265A>G
ENST00000567713.5:c.322-115A>G	ENSP00000455749.1:n.322-115A>G
ENST00000568319.5:c.*131A>G	ENSP00000456905.1:n.*131A>G
ENST00000569616.1:c.656A>G
NM_000485.2:c.*48A>G	NP_000476.1:n.*48A>G
NM_001030018.1:c.*52A>G	NP_001025189.1:n.*52A>G
NM_000485.3:c.*48A>G MANE Select	NP_000476.1:n.*48A>G
NM_001030018.2:c.*52A>G	NP_001025189.1:n.*52A>G