Canonical Allele Identifier: CA2687083971

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169479-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169479A>T , CM000670.2:g.42169479A>T	GRCh38
NC_000008.10:g.42026997A>T , CM000670.1:g.42026997A>T	GRCh37
NC_000008.9:g.42146154A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*418A>T MANE Select	ENSP00000380132.3:n.*418A>T
ENST00000174653.3:c.*418A>T	ENSP00000174653.3:n.*418A>T
ENST00000396926.7:c.*418A>T	ENSP00000380132.3:n.*418A>T
ENST00000518421.5:c.*418A>T	ENSP00000428787.1:n.*418A>T
ENST00000520689.1:c.371+194A>T	ENSP00000429804.1:n.371+194A>T
NM_001134296.1:c.*418A>T	NP_001127768.1:n.*418A>T
NM_006803.3:c.*418A>T	NP_006794.1:n.*418A>T
XM_017012977.2:c.*418A>T	XP_016868466.1:n.*418A>T
XR_001745459.2:n.1960A>T
NM_006803.4:c.*418A>T MANE Select	NP_006794.1:n.*418A>T
NM_001134296.2:c.*418A>T	NP_001127768.1:n.*418A>T