Canonical Allele Identifier: CA2967378292

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165008T>C , CM000670.2:g.42165008T>C	GRCh38
NC_000008.10:g.42022526T>C , CM000670.1:g.42022526T>C	GRCh37
NC_000008.9:g.42141683T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.584-63T>C MANE Select	NP_006794.1:n.584-63T>C
ENST00000396926.8:c.584-63T>C MANE Select	ENSP00000380132.3:n.584-63T>C
NM_001134296.1:c.584-63T>C	NP_001127768.1:n.584-63T>C
NM_001134296.2:c.584-63T>C	NP_001127768.1:n.584-63T>C
NM_006803.3:c.584-63T>C	NP_006794.1:n.584-63T>C
ENST00000174653.3:c.584-63T>C	ENSP00000174653.3:n.584-63T>C
ENST00000396926.7:c.584-63T>C	ENSP00000380132.3:n.584-63T>C
ENST00000517499.5:c.173-63T>C	ENSP00000429037.1:n.173-63T>C
ENST00000517865.5:c.*315-63T>C	ENSP00000430200.1:n.*315-63T>C
ENST00000517922.5:c.584-63T>C	ENSP00000429435.1:n.584-63T>C
ENST00000518421.5:c.584-63T>C	ENSP00000428787.1:n.584-63T>C
ENST00000520685.1:n.78-2658T>C
ENST00000521280.5:c.239-63T>C	ENSP00000430616.1:n.239-63T>C
ENST00000521899.1:n.351-63T>C
ENST00000523249.1:n.589-63T>C
ENST00000530375.5:c.584-63T>C	ENSP00000431918.1:n.584-63T>C
XM_017012977.2:c.584-63T>C	XP_016868466.1:n.584-63T>C
XR_001745459.2:n.727-63T>C