Canonical Allele Identifier: CA371085387

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165086C>T , CM000670.2:g.42165086C>T	GRCh38
NC_000008.10:g.42022604C>T , CM000670.1:g.42022604C>T	GRCh37
NC_000008.9:g.42141761C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.599C>T MANE Select	NP_006794.1:p.Ala200Val
ENST00000396926.8:c.599C>T MANE Select	ENSP00000380132.3:p.Ala200Val
NM_001134296.1:c.599C>T	NP_001127768.1:p.Ala200Val
NM_001134296.2:c.599C>T	NP_001127768.1:p.Ala200Val
NM_006803.3:c.599C>T	NP_006794.1:p.Ala200Val
ENST00000174653.3:c.599C>T	ENSP00000174653.3:p.Ala200Val
ENST00000396926.7:c.599C>T	ENSP00000380132.3:p.Ala200Val
ENST00000517499.5:c.188C>T	ENSP00000429037.1:p.Ala63Val
ENST00000517865.5:c.*330C>T	ENSP00000430200.1:n.*330C>T
ENST00000517922.5:c.599C>T	ENSP00000429435.1:p.Ala200Val
ENST00000518421.5:c.599C>T	ENSP00000428787.1:p.Ala200Val
ENST00000520685.1:n.78-2580C>T
ENST00000521280.5:c.254C>T	ENSP00000430616.1:p.Ala85Val
ENST00000521899.1:n.366C>T
ENST00000523249.1:n.604C>T
ENST00000530375.5:c.599C>T	ENSP00000431918.1:p.Ala200Val
XM_017012977.2:c.599C>T	XP_016868466.1:p.Ala200Val
XR_001745459.2:n.742C>T