Canonical Allele Identifier: CA2241308414
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810507A= , CM000678.2:g.88810507A= GRCh38
NC_000016.9:g.88876915A= , CM000678.1:g.88876915A= GRCh37
NC_000016.8:g.87404416A= NCBI36
NG_008013.1:g.6428T=
NG_028266.1:g.11730A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.237T= MANE Select ENSP00000367615.3:p.Leu79=
ENST00000378364.7:c.237T= ENSP00000367615.3:p.Leu79=
ENST00000426324.6:c.237T= ENSP00000397007.2:p.Leu79=
ENST00000562464.1:n.332-359T=
ENST00000563655.5:c.241-359T= ENSP00000456012.1:n.241-359T=
ENST00000567391.5:c.188-359T= ENSP00000457964.1:n.188-359T=
ENST00000567713.5:c.237T= ENSP00000455749.1:p.Leu79=
ENST00000568319.5:c.188-359T= ENSP00000456905.1:n.188-359T=
ENST00000569616.1:c.235T=
NM_000485.2:c.237T= NP_000476.1:p.Leu79=
NM_001030018.1:c.237T= NP_001025189.1:p.Leu79=
NM_000485.3:c.237T= MANE Select NP_000476.1:p.Leu79=
NM_001030018.2:c.237T= NP_001025189.1:p.Leu79=