Canonical Allele Identifier: CA8234352

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809750C>T , CM000678.2:g.88809750C>T	GRCh38
NC_000016.9:g.88876158C>T , CM000678.1:g.88876158C>T	GRCh37
NC_000016.8:g.87403659C>T	NCBI36
NG_008013.1:g.7185G>A
NG_028266.1:g.10973C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.491G>A MANE Select	NP_000476.1:p.Gly164Asp
ENST00000378364.8:c.491G>A MANE Select	ENSP00000367615.3:p.Gly164Asp
NM_000485.2:c.491G>A	NP_000476.1:p.Gly164Asp
NM_001030018.1:c.401-44G>A	NP_001025189.1:n.401-44G>A
NM_001030018.2:c.401-44G>A	NP_001025189.1:n.401-44G>A
ENST00000378364.7:c.491G>A	ENSP00000367615.3:p.Gly164Asp
ENST00000426324.6:c.401-44G>A	ENSP00000397007.2:n.401-44G>A
ENST00000562464.1:n.501G>A
ENST00000563655.5:c.410G>A	ENSP00000456012.1:p.Gly137Asp
ENST00000567057.5:n.200-44G>A
ENST00000567391.5:c.*165G>A	ENSP00000457964.1:n.*165G>A
ENST00000567713.5:c.322-215G>A	ENSP00000455749.1:n.322-215G>A
ENST00000568319.5:c.*75-44G>A	ENSP00000456905.1:n.*75-44G>A
ENST00000568575.1:n.420G>A
ENST00000569616.1:c.556G>A