Canonical Allele Identifier: CA8234372

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809830G>A , CM000678.2:g.88809830G>A	GRCh38
NC_000016.9:g.88876238G>A , CM000678.1:g.88876238G>A	GRCh37
NC_000016.8:g.87403739G>A	NCBI36
NG_008013.1:g.7105C>T
NG_028266.1:g.11053G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.411C>T MANE Select	NP_000476.1:p.Asn137=
ENST00000378364.8:c.411C>T MANE Select	ENSP00000367615.3:p.Asn137=
NM_000485.2:c.411C>T	NP_000476.1:p.Asn137=
NM_001030018.1:c.401-124C>T	NP_001025189.1:n.401-124C>T
NM_001030018.2:c.401-124C>T	NP_001025189.1:n.401-124C>T
ENST00000378364.7:c.411C>T	ENSP00000367615.3:p.Asn137=
ENST00000426324.6:c.401-124C>T	ENSP00000397007.2:n.401-124C>T
ENST00000562464.1:n.421C>T
ENST00000563655.5:c.330C>T	ENSP00000456012.1:p.Asn110=
ENST00000567057.5:n.200-124C>T
ENST00000567391.5:c.*85C>T	ENSP00000457964.1:n.*85C>T
ENST00000567713.5:c.322-295C>T	ENSP00000455749.1:n.322-295C>T
ENST00000568319.5:c.*75-124C>T	ENSP00000456905.1:n.*75-124C>T
ENST00000568575.1:n.340C>T
ENST00000569616.1:c.476C>T