Canonical Allele Identifier: CA371085370

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165083C>A , CM000670.2:g.42165083C>A	GRCh38
NC_000008.10:g.42022601C>A , CM000670.1:g.42022601C>A	GRCh37
NC_000008.9:g.42141758C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.596C>A MANE Select	NP_006794.1:p.Thr199Asn
ENST00000396926.8:c.596C>A MANE Select	ENSP00000380132.3:p.Thr199Asn
NM_001134296.1:c.596C>A	NP_001127768.1:p.Thr199Asn
NM_001134296.2:c.596C>A	NP_001127768.1:p.Thr199Asn
NM_006803.3:c.596C>A	NP_006794.1:p.Thr199Asn
ENST00000174653.3:c.596C>A	ENSP00000174653.3:p.Thr199Asn
ENST00000396926.7:c.596C>A	ENSP00000380132.3:p.Thr199Asn
ENST00000517499.5:c.185C>A	ENSP00000429037.1:p.Thr62Asn
ENST00000517865.5:c.*327C>A	ENSP00000430200.1:n.*327C>A
ENST00000517922.5:c.596C>A	ENSP00000429435.1:p.Thr199Asn
ENST00000518421.5:c.596C>A	ENSP00000428787.1:p.Thr199Asn
ENST00000520685.1:n.78-2583C>A
ENST00000521280.5:c.251C>A	ENSP00000430616.1:p.Thr84Asn
ENST00000521899.1:n.363C>A
ENST00000523249.1:n.601C>A
ENST00000530375.5:c.596C>A	ENSP00000431918.1:p.Thr199Asn
XM_017012977.2:c.596C>A	XP_016868466.1:p.Thr199Asn
XR_001745459.2:n.739C>A