Canonical Allele Identifier: CA2687083975

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169483-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169483C>A , CM000670.2:g.42169483C>A	GRCh38
NC_000008.10:g.42027001C>A , CM000670.1:g.42027001C>A	GRCh37
NC_000008.9:g.42146158C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*422C>A MANE Select	ENSP00000380132.3:n.*422C>A
ENST00000174653.3:c.*422C>A	ENSP00000174653.3:n.*422C>A
ENST00000396926.7:c.*422C>A	ENSP00000380132.3:n.*422C>A
ENST00000518421.5:c.*422C>A	ENSP00000428787.1:n.*422C>A
ENST00000520689.1:c.371+198C>A	ENSP00000429804.1:n.371+198C>A
NM_001134296.1:c.*422C>A	NP_001127768.1:n.*422C>A
NM_006803.3:c.*422C>A	NP_006794.1:n.*422C>A
XM_017012977.2:c.*422C>A	XP_016868466.1:n.*422C>A
XR_001745459.2:n.1964C>A
NM_006803.4:c.*422C>A MANE Select	NP_006794.1:n.*422C>A
NM_001134296.2:c.*422C>A	NP_001127768.1:n.*422C>A