Canonical Allele Identifier: CA371085378

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165085G>C , CM000670.2:g.42165085G>C	GRCh38
NC_000008.10:g.42022603G>C , CM000670.1:g.42022603G>C	GRCh37
NC_000008.9:g.42141760G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.598G>C MANE Select	NP_006794.1:p.Ala200Pro
ENST00000396926.8:c.598G>C MANE Select	ENSP00000380132.3:p.Ala200Pro
NM_001134296.1:c.598G>C	NP_001127768.1:p.Ala200Pro
NM_001134296.2:c.598G>C	NP_001127768.1:p.Ala200Pro
NM_006803.3:c.598G>C	NP_006794.1:p.Ala200Pro
ENST00000174653.3:c.598G>C	ENSP00000174653.3:p.Ala200Pro
ENST00000396926.7:c.598G>C	ENSP00000380132.3:p.Ala200Pro
ENST00000517499.5:c.187G>C	ENSP00000429037.1:p.Ala63Pro
ENST00000517865.5:c.*329G>C	ENSP00000430200.1:n.*329G>C
ENST00000517922.5:c.598G>C	ENSP00000429435.1:p.Ala200Pro
ENST00000518421.5:c.598G>C	ENSP00000428787.1:p.Ala200Pro
ENST00000520685.1:n.78-2581G>C
ENST00000521280.5:c.253G>C	ENSP00000430616.1:p.Ala85Pro
ENST00000521899.1:n.365G>C
ENST00000523249.1:n.603G>C
ENST00000530375.5:c.598G>C	ENSP00000431918.1:p.Ala200Pro
XM_017012977.2:c.598G>C	XP_016868466.1:p.Ala200Pro
XR_001745459.2:n.741G>C