Canonical Allele Identifier: CA371085394

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165088G>C , CM000670.2:g.42165088G>C	GRCh38
NC_000008.10:g.42022606G>C , CM000670.1:g.42022606G>C	GRCh37
NC_000008.9:g.42141763G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.601G>C MANE Select	NP_006794.1:p.Glu201Gln
ENST00000396926.8:c.601G>C MANE Select	ENSP00000380132.3:p.Glu201Gln
NM_001134296.1:c.601G>C	NP_001127768.1:p.Glu201Gln
NM_001134296.2:c.601G>C	NP_001127768.1:p.Glu201Gln
NM_006803.3:c.601G>C	NP_006794.1:p.Glu201Gln
ENST00000174653.3:c.601G>C	ENSP00000174653.3:p.Glu201Gln
ENST00000396926.7:c.601G>C	ENSP00000380132.3:p.Glu201Gln
ENST00000517499.5:c.190G>C	ENSP00000429037.1:p.Glu64Gln
ENST00000517865.5:c.*332G>C	ENSP00000430200.1:n.*332G>C
ENST00000517922.5:c.601G>C	ENSP00000429435.1:p.Glu201Gln
ENST00000518421.5:c.601G>C	ENSP00000428787.1:p.Glu201Gln
ENST00000520685.1:n.78-2578G>C
ENST00000521280.5:c.256G>C	ENSP00000430616.1:p.Glu86Gln
ENST00000521899.1:n.368G>C
ENST00000523249.1:n.606G>C
ENST00000530375.5:c.601G>C	ENSP00000431918.1:p.Glu201Gln
XM_017012977.2:c.601G>C	XP_016868466.1:p.Glu201Gln
XR_001745459.2:n.744G>C