Canonical Allele Identifier: CA2241307930
Community Standard Title: NM_000485.3(APRT):c.407T= (p.Met136=)
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809834A= , CM000678.2:g.88809834A= GRCh38
NC_000016.9:g.88876242A= , CM000678.1:g.88876242A= GRCh37
NC_000016.8:g.87403743A= NCBI36
NG_008013.1:g.7101T=
NG_028266.1:g.11057A=

Transcript Alleles

HGVS Amino-acid Change
NM_000485.3:c.407T= MANE Select NP_000476.1:p.Met136=
ENST00000378364.8:c.407T= MANE Select ENSP00000367615.3:p.Met136=
NM_000485.2:c.407T= NP_000476.1:p.Met136=
NM_001030018.1:c.401-128T= NP_001025189.1:n.401-128T=
NM_001030018.2:c.401-128T= NP_001025189.1:n.401-128T=
ENST00000378364.7:c.407T= ENSP00000367615.3:p.Met136=
ENST00000426324.6:c.401-128T= ENSP00000397007.2:n.401-128T=
ENST00000562464.1:n.417T=
ENST00000563655.5:c.326T= ENSP00000456012.1:p.Met109=
ENST00000567057.5:n.200-128T=
ENST00000567391.5:c.*81T= ENSP00000457964.1:n.*81T=
ENST00000567713.5:c.322-299T= ENSP00000455749.1:n.322-299T=
ENST00000568319.5:c.*75-128T= ENSP00000456905.1:n.*75-128T=
ENST00000568575.1:n.336T=
ENST00000569616.1:c.472T=