Canonical Allele Identifier: CA2841422816

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809657C>A , CM000678.2:g.88809657C>A	GRCh38
NC_000016.9:g.88876065C>A , CM000678.1:g.88876065C>A	GRCh37
NC_000016.8:g.87403566C>A	NCBI36
NG_008013.1:g.7278G>T
NG_028266.1:g.10880C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*41G>T MANE Select	ENSP00000367615.3:n.*41G>T
ENST00000378364.7:c.*41G>T	ENSP00000367615.3:n.*41G>T
ENST00000426324.6:c.*45G>T	ENSP00000397007.2:n.*45G>T
ENST00000563655.5:c.*41G>T	ENSP00000456012.1:n.*41G>T
ENST00000567057.5:n.249G>T
ENST00000567391.5:c.*258G>T	ENSP00000457964.1:n.*258G>T
ENST00000567713.5:c.322-122G>T	ENSP00000455749.1:n.322-122G>T
ENST00000568319.5:c.*124G>T	ENSP00000456905.1:n.*124G>T
ENST00000569616.1:c.649G>T
NM_000485.2:c.*41G>T	NP_000476.1:n.*41G>T
NM_001030018.1:c.*45G>T	NP_001025189.1:n.*45G>T
NM_000485.3:c.*41G>T MANE Select	NP_000476.1:n.*41G>T
NM_001030018.2:c.*45G>T	NP_001025189.1:n.*45G>T