Canonical Allele Identifier: CA980350320

Gene: APRT

Linked Data

• dbSNP Id: rs1909031560
• gnomAD v3: 16-88809689-G-A
• gnomAD v4: 16-88809689-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809689G>A , CM000678.2:g.88809689G>A	GRCh38
NC_000016.9:g.88876097G>A , CM000678.1:g.88876097G>A	GRCh37
NC_000016.8:g.87403598G>A	NCBI36
NG_008013.1:g.7246C>T
NG_028266.1:g.10912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*9C>T MANE Select	ENSP00000367615.3:n.*9C>T
ENST00000378364.7:c.*9C>T	ENSP00000367615.3:n.*9C>T
ENST00000426324.6:c.*13C>T	ENSP00000397007.2:n.*13C>T
ENST00000563655.5:c.*9C>T	ENSP00000456012.1:n.*9C>T
ENST00000567057.5:n.217C>T
ENST00000567391.5:c.*226C>T	ENSP00000457964.1:n.*226C>T
ENST00000567713.5:c.322-154C>T	ENSP00000455749.1:n.322-154C>T
ENST00000568319.5:c.*92C>T	ENSP00000456905.1:n.*92C>T
ENST00000568575.1:n.481C>T
ENST00000569616.1:c.617C>T
NM_000485.2:c.*9C>T	NP_000476.1:n.*9C>T
NM_001030018.1:c.*13C>T	NP_001025189.1:n.*13C>T
NM_000485.3:c.*9C>T MANE Select	NP_000476.1:n.*9C>T
NM_001030018.2:c.*13C>T	NP_001025189.1:n.*13C>T