Canonical Allele Identifier: CA2741509812

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809665C>G , CM000678.2:g.88809665C>G	GRCh38
NC_000016.9:g.88876073C>G , CM000678.1:g.88876073C>G	GRCh37
NC_000016.8:g.87403574C>G	NCBI36
NG_008013.1:g.7270G>C
NG_028266.1:g.10888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*33G>C MANE Select	ENSP00000367615.3:n.*33G>C
ENST00000378364.7:c.*33G>C	ENSP00000367615.3:n.*33G>C
ENST00000426324.6:c.*37G>C	ENSP00000397007.2:n.*37G>C
ENST00000563655.5:c.*33G>C	ENSP00000456012.1:n.*33G>C
ENST00000567057.5:n.241G>C
ENST00000567391.5:c.*250G>C	ENSP00000457964.1:n.*250G>C
ENST00000567713.5:c.322-130G>C	ENSP00000455749.1:n.322-130G>C
ENST00000568319.5:c.*116G>C	ENSP00000456905.1:n.*116G>C
ENST00000569616.1:c.641G>C
NM_000485.2:c.*33G>C	NP_000476.1:n.*33G>C
NM_001030018.1:c.*37G>C	NP_001025189.1:n.*37G>C
NM_000485.3:c.*33G>C MANE Select	NP_000476.1:n.*33G>C
NM_001030018.2:c.*37G>C	NP_001025189.1:n.*37G>C