Canonical Allele Identifier: CA1779304653
Community Standard Title: NM_006803.4(AP3M2):c.*685A=
Gene: AP3M2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169746A= , CM000670.2:g.42169746A= GRCh38
NC_000008.10:g.42027264A= , CM000670.1:g.42027264A= GRCh37
NC_000008.9:g.42146421A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006803.4:c.*685A= MANE Select NP_006794.1:n.*685A=
ENST00000396926.8:c.*685A= MANE Select ENSP00000380132.3:n.*685A=
NM_001134296.1:c.*685A= NP_001127768.1:n.*685A=
NM_001134296.2:c.*685A= NP_001127768.1:n.*685A=
NM_006803.3:c.*685A= NP_006794.1:n.*685A=
ENST00000174653.3:c.*685A= ENSP00000174653.3:n.*685A=
ENST00000396926.7:c.*685A= ENSP00000380132.3:n.*685A=
ENST00000518421.5:c.*685A= ENSP00000428787.1:n.*685A=
ENST00000520689.1:c.372-143A= ENSP00000429804.1:n.372-143A=
XM_017012977.2:c.*685A= XP_016868466.1:n.*685A=
XR_001745459.2:n.2227A=