Canonical Allele Identifier: CA3161770262
Community Standard Title: NM_006803.4(AP3M2):c.597T= (p.Thr199=)
Gene: AP3M2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42165084T= , CM000670.2:g.42165084T= GRCh38
NC_000008.10:g.42022602T= , CM000670.1:g.42022602T= GRCh37
NC_000008.9:g.42141759T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006803.4:c.597T= MANE Select NP_006794.1:p.Thr199=
ENST00000396926.8:c.597T= MANE Select ENSP00000380132.3:p.Thr199=
NM_001134296.1:c.597T= NP_001127768.1:p.Thr199=
NM_001134296.2:c.597T= NP_001127768.1:p.Thr199=
NM_006803.3:c.597T= NP_006794.1:p.Thr199=
ENST00000174653.3:c.597T= ENSP00000174653.3:p.Thr199=
ENST00000396926.7:c.597T= ENSP00000380132.3:p.Thr199=
ENST00000517499.5:c.186T= ENSP00000429037.1:p.Thr62=
ENST00000517865.5:c.*328T= ENSP00000430200.1:n.*328T=
ENST00000517922.5:c.597T= ENSP00000429435.1:p.Thr199=
ENST00000518421.5:c.597T= ENSP00000428787.1:p.Thr199=
ENST00000520685.1:n.78-2582T=
ENST00000521280.5:c.252T= ENSP00000430616.1:p.Thr84=
ENST00000521899.1:n.364T=
ENST00000523249.1:n.602T=
ENST00000530375.5:c.597T= ENSP00000431918.1:p.Thr199=
XM_017012977.2:c.597T= XP_016868466.1:p.Thr199=
XR_001745459.2:n.740T=