Canonical Allele Identifier: CA371085438

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165096G>C , CM000670.2:g.42165096G>C	GRCh38
NC_000008.10:g.42022614G>C , CM000670.1:g.42022614G>C	GRCh37
NC_000008.9:g.42141771G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.609G>C MANE Select	NP_006794.1:p.Gln203His
ENST00000396926.8:c.609G>C MANE Select	ENSP00000380132.3:p.Gln203His
NM_001134296.1:c.609G>C	NP_001127768.1:p.Gln203His
NM_001134296.2:c.609G>C	NP_001127768.1:p.Gln203His
NM_006803.3:c.609G>C	NP_006794.1:p.Gln203His
ENST00000174653.3:c.609G>C	ENSP00000174653.3:p.Gln203His
ENST00000396926.7:c.609G>C	ENSP00000380132.3:p.Gln203His
ENST00000517499.5:c.198G>C	ENSP00000429037.1:p.Gln66His
ENST00000517865.5:c.*340G>C	ENSP00000430200.1:n.*340G>C
ENST00000517922.5:c.609G>C	ENSP00000429435.1:p.Gln203His
ENST00000518421.5:c.609G>C	ENSP00000428787.1:p.Gln203His
ENST00000520685.1:n.78-2570G>C
ENST00000521280.5:c.264G>C	ENSP00000430616.1:p.Gln88His
ENST00000521899.1:n.376G>C
ENST00000523249.1:n.614G>C
ENST00000530375.5:c.609G>C	ENSP00000431918.1:p.Gln203His
XM_017012977.2:c.609G>C	XP_016868466.1:p.Gln203His
XR_001745459.2:n.752G>C