Canonical Allele Identifier: CA2841422807

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809632G>A , CM000678.2:g.88809632G>A	GRCh38
NC_000016.9:g.88876040G>A , CM000678.1:g.88876040G>A	GRCh37
NC_000016.8:g.87403541G>A	NCBI36
NG_008013.1:g.7303C>T
NG_028266.1:g.10855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*66C>T MANE Select	ENSP00000367615.3:n.*66C>T
ENST00000378364.7:c.*66C>T	ENSP00000367615.3:n.*66C>T
ENST00000426324.6:c.*70C>T	ENSP00000397007.2:n.*70C>T
ENST00000563655.5:c.*66C>T	ENSP00000456012.1:n.*66C>T
ENST00000567057.5:n.274C>T
ENST00000567391.5:c.*283C>T	ENSP00000457964.1:n.*283C>T
ENST00000567713.5:c.322-97C>T	ENSP00000455749.1:n.322-97C>T
ENST00000568319.5:c.*149C>T	ENSP00000456905.1:n.*149C>T
ENST00000569616.1:c.674C>T
NM_000485.2:c.*66C>T	NP_000476.1:n.*66C>T
NM_001030018.1:c.*70C>T	NP_001025189.1:n.*70C>T
NM_000485.3:c.*66C>T MANE Select	NP_000476.1:n.*66C>T
NM_001030018.2:c.*70C>T	NP_001025189.1:n.*70C>T