Canonical Allele Identifier: CA2634887063

Gene: APRT

Linked Data

• gnomAD v4: 16-88809642-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809642A>G , CM000678.2:g.88809642A>G	GRCh38
NC_000016.9:g.88876050A>G , CM000678.1:g.88876050A>G	GRCh37
NC_000016.8:g.87403551A>G	NCBI36
NG_008013.1:g.7293T>C
NG_028266.1:g.10865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*56T>C MANE Select	ENSP00000367615.3:n.*56T>C
ENST00000378364.7:c.*56T>C	ENSP00000367615.3:n.*56T>C
ENST00000426324.6:c.*60T>C	ENSP00000397007.2:n.*60T>C
ENST00000563655.5:c.*56T>C	ENSP00000456012.1:n.*56T>C
ENST00000567057.5:n.264T>C
ENST00000567391.5:c.*273T>C	ENSP00000457964.1:n.*273T>C
ENST00000567713.5:c.322-107T>C	ENSP00000455749.1:n.322-107T>C
ENST00000568319.5:c.*139T>C	ENSP00000456905.1:n.*139T>C
ENST00000569616.1:c.664T>C
NM_000485.2:c.*56T>C	NP_000476.1:n.*56T>C
NM_001030018.1:c.*60T>C	NP_001025189.1:n.*60T>C
NM_000485.3:c.*56T>C MANE Select	NP_000476.1:n.*56T>C
NM_001030018.2:c.*60T>C	NP_001025189.1:n.*60T>C