Canonical Allele Identifier: CA3156715134
Community Standard Title: NM_006803.4(AP3M2):c.608A= (p.Gln203=)
Gene: AP3M2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42165095A= , CM000670.2:g.42165095A= GRCh38
NC_000008.10:g.42022613A= , CM000670.1:g.42022613A= GRCh37
NC_000008.9:g.42141770A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006803.4:c.608A= MANE Select NP_006794.1:p.Gln203=
ENST00000396926.8:c.608A= MANE Select ENSP00000380132.3:p.Gln203=
NM_001134296.1:c.608A= NP_001127768.1:p.Gln203=
NM_001134296.2:c.608A= NP_001127768.1:p.Gln203=
NM_006803.3:c.608A= NP_006794.1:p.Gln203=
ENST00000174653.3:c.608A= ENSP00000174653.3:p.Gln203=
ENST00000396926.7:c.608A= ENSP00000380132.3:p.Gln203=
ENST00000517499.5:c.197A= ENSP00000429037.1:p.Gln66=
ENST00000517865.5:c.*339A= ENSP00000430200.1:n.*339A=
ENST00000517922.5:c.608A= ENSP00000429435.1:p.Gln203=
ENST00000518421.5:c.608A= ENSP00000428787.1:p.Gln203=
ENST00000520685.1:n.78-2571A=
ENST00000521280.5:c.263A= ENSP00000430616.1:p.Gln88=
ENST00000521899.1:n.375A=
ENST00000523249.1:n.613A=
ENST00000530375.5:c.608A= ENSP00000431918.1:p.Gln203=
XM_017012977.2:c.608A= XP_016868466.1:p.Gln203=
XR_001745459.2:n.751A=