Canonical Allele Identifier: CA2841422806

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809622C>A , CM000678.2:g.88809622C>A	GRCh38
NC_000016.9:g.88876030C>A , CM000678.1:g.88876030C>A	GRCh37
NC_000016.8:g.87403531C>A	NCBI36
NG_008013.1:g.7313G>T
NG_028266.1:g.10845C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*76G>T MANE Select	ENSP00000367615.3:n.*76G>T
ENST00000378364.7:c.*76G>T	ENSP00000367615.3:n.*76G>T
ENST00000426324.6:c.*80G>T	ENSP00000397007.2:n.*80G>T
ENST00000563655.5:c.*76G>T	ENSP00000456012.1:n.*76G>T
ENST00000567057.5:n.284G>T
ENST00000567391.5:c.*293G>T	ENSP00000457964.1:n.*293G>T
ENST00000567713.5:c.322-87G>T	ENSP00000455749.1:n.322-87G>T
ENST00000568319.5:c.*159G>T	ENSP00000456905.1:n.*159G>T
ENST00000569616.1:c.684G>T
NM_000485.2:c.*76G>T	NP_000476.1:n.*76G>T
NM_001030018.1:c.*80G>T	NP_001025189.1:n.*80G>T
NM_000485.3:c.*76G>T MANE Select	NP_000476.1:n.*76G>T
NM_001030018.2:c.*80G>T	NP_001025189.1:n.*80G>T